Phenotype
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Overview
subject area of
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients Academic Article
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17HSD 2 may be higher in African-American breast cancer and is associated with estrogen receptor-negative tumors. Academic Article
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4-phenylbutyrate and valproate treatment attenuates the progression of atherosclerosis and stabilizes existing plaques Academic Article
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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis Academic Article
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GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Academic Article
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In VivoMagnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype forcdf/cdfMice Academic Article
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TSPEARvariants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Academic Article
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A Bayesian hierarchical model for improving measurement of 5mC and 5hmC levels: Toward revealing associations between phenotypes and methylation states Academic Article
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A Candidate-Gene Approach Identifies Novel Associations Between Common Variants in/Near Syndromic Obesity Genes and BMI in Pediatric and Adult European Populations Academic Article
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A Computable Phenotype for Autosomal Dominant Polycystic Kidney Disease Academic Article
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A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Academic Article
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A Male Phenotype With Aicardi Syndrome Academic Article
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A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy Academic Article
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A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait Academic Article
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A Novel Type 2A von Willebrand Factor Mutation (V1499E) Associated With Variable Clinical Expression Academic Article
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A PPARγ mutant serves as a dominant negative inhibitor of PPAR signaling and is localized in the nucleus Academic Article
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A Population-Based Study of Dystrophin Mutations in Canada Academic Article
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A Prospective Case Series of High-risk Infants who Developed Autism Academic Article
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A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment Academic Article
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A Role of p73 in Mitotic Exit Academic Article
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A STUDY OF CANALIZATION AND DEVELOPMENTAL STABILITY IN THE STERNOPLEURAL BRISTLE SYSTEM OF DROSOPHILA MELANOGASTER Academic Article
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A comparison of pravastatin and gemfibrozil in the treatment of dyslipoproteinemia in patients with non-insulin-dependent diabetes mellitus Academic Article
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease Academic Article
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A consensus-based framework for conducting and reporting osteoarthritis phenotype research Academic Article
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A fatal lymphoproliferative disorder with a suppressor T-cell phenotype. Neoplastic, reactive, or both? Academic Article
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A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation Academic Article
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A fertile man with tdic(Y;22): How a stable neo-X1X2Y sex-determining mechanism could evolve in man Academic Article
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A general mechanism for conditional expression of exaggerated sexually-selected traits Academic Article
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A genetic link between prepregnancy body mass index, postpartum weight retention, and offspring weight in early childhood Academic Article
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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees Academic Article
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A genotype-to-phenotype map of in vitro selected RNA-cleaving DNAzymes: implications for accessing the target phenotype Academic Article
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A human cell line that maintains telomeres in the absence of telomerase and of key markers of ALT Academic Article
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A large-scale candidate gene association study of age at menarche and age at natural menopause Academic Article
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A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics Academic Article
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A monocyte-TNF-endothelial activation axis in sickle transgenic mice: Therapeutic benefit from TNF blockade Academic Article
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A multiplexable assay for screening antibiotic lethality against drug-tolerant bacteria Academic Article
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A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family Academic Article
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A newly discovered class of human hematopoietic cells with SCID-repopulating activity Academic Article
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A novel assay for improved detection of sputum periostin in patients with asthma Academic Article
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A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies Academic Article
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A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
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A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features Academic Article
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A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths Academic Article
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A phenome-wide association study of a lipoprotein-associated phospholipase A2loss-of-function variant in 90 000 Chinese adults Academic Article
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A phosphate transport system is required for symbiotic nitrogen fixation by Rhizobium meliloti Academic Article
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia Academic Article
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A robust method to estimate regional polygenic correlation under misspecified linkage disequilibrium structure Academic Article
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A simplified diagnosis algorithm for dysbetalipoproteinemia Academic Article
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A standardised method for interpreting the association between mutations and phenotypic drug resistance inMycobacterium tuberculosis Academic Article
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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies Academic Article
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ALTITUDINAL CLINAL VARIATION IN WING SIZE AND SHAPE IN AFRICANDROSOPHILA MELANOGASTER: ONE CLINE OR MANY? Academic Article
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ANCA-positive and ANCA-negative phenotypes of eosinophilic granulomatosis with polyangiitis (EGPA): outcome and long-term follow-up of 50 patients from a single Polish center. Academic Article
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AP-2α is required after lens vesicle formation to maintain lens integrity Academic Article
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AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle Academic Article
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APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia Academic Article
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Aberrant Epigenetic Regulation: A Central Contributor to Lung Carcinogenesis and a New Therapeutic Target Academic Article
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Abnormal enzyme phenotype (e1 a e1 f): Normal response to succinylcholine Academic Article
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Absence of compensatory vasodilation with perfusion pressure challenge in exercise: evidence for and implications of the noncompensator phenotype Academic Article
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Acclimation of the crucifer
Eutrema salsugineum
to phosphate limitation is associated with constitutively high expression of phosphate‐starvation genes Academic Article
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Accuracy and Biological Variation of Human Serum Paraoxonase 1 Activity and Polymorphism (Q192R) by Kinetic Enzyme Assay Academic Article
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Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis Academic Article
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Acetylation phenotype and cytochrome P450IA2 phenotype are unlikely to be associated with peripheral arterial disease Academic Article
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Active metabolite concentration of clopidogrel in patients taking different doses of aspirin: results of the interaction trial Academic Article
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Acute exacerbations of progressive-fibrosing interstitial lung diseases Academic Article
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Adaptationism – how to carry out an exaptationist program Academic Article
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Adenosine Kinase Deficiency Is Associated with Developmental Abnormalities and Reduced Transmethylation Academic Article
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Adiponectin is expressed by skeletal muscle fibers and influences muscle phenotype and function Academic Article
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Admixture mapping of male nuptial colour and body shape in a recently formed hybrid population of threespine stickleback Academic Article
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Advances in Genomic Analysis of Stroke Academic Article
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Advances in the molecular classification of pediatric brain tumors: a guide to the galaxy Academic Article
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Adverse metabolic phenotype of adolescent girls with non-alcoholic fatty liver disease plus polycystic ovary syndrome compared with other girls and boys Academic Article
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Age differences in arterial and venous extra-cerebral blood flow in healthy adults: contributions of vascular risk factors and genetic variants Academic Article
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Age-Related Resistance in Arabidopsis thaliana Involves the MADS-Domain Transcription Factor SHORT VEGETATIVE PHASE and Direct Action of Salicylic Acid on Pseudomonas syringae Academic Article
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Airway smooth muscle in asthma: Phenotype plasticity and function Conference Paper
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Alexithymia in Parents of Children with Autism Spectrum Disorder Academic Article
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Allelic and phenotypic spectrum of plasma triglycerides Academic Article
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Allergen bronchoprovocation test: an important research tool supporting precision medicine Academic Article
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Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling Academic Article
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An ABC-Type Cobalt Transport System Is Essential for Growth of Sinorhizobium melilotiat Trace Metal Concentrations Academic Article
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An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia Academic Article
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An Intact Intermediate Filament Network Is Required for Collateral Sprouting of Small Diameter Nerve Fibers Academic Article
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An Overview of the Heparin-Induced Thrombocytopenia Syndrome Academic Article
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An anti-CRISPR from a virulent streptococcal phage inhibits Streptococcus pyogenes Cas9 Academic Article
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids Academic Article
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Analysis of Beta-Cell Gene Expression Reveals Inflammatory Signaling and Evidence of Dedifferentiation following Human Islet Isolation and Culture Academic Article
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Analysis of C4-dicarboxylate transport genes in Rhizobium meliloti Academic Article
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Analysis of a 1600-kilobase Rhizobium meliloti megaplasmid using defined deletions generated in vivo. Academic Article
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Analysis of the Contribution of
Salmonella
Pathogenicity Islands 1 and 2 to Enteric Disease Progression Using a Novel Bovine Ileal Loop Model and a Murine Model of Infectious Enterocolitis Academic Article
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Analytical strategies to include the X‐chromosome in variance heterogeneity analyses: Evidence for trait‐specific polygenic variance structure Academic Article
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Another Bacillus sphaericus serotype harbouring strains very toxic to mosquito larvae: Serotype H6 Academic Article
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Antibodies Encoded by FCRL4-Bearing Memory B Cells Preferentially Recognize Commensal Microbial Antigens Academic Article
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Association Between a Literature-Based Genetic Risk Score and Cardiovascular Events in Women Academic Article
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Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma Academic Article
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Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation Academic Article
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Association between HLA Class I and Class II Alleles and the Outcome of West Nile Virus Infection: An Exploratory Study Academic Article
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Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample Academic Article
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Association of DRD4 with attention problems in normal childhood development Academic Article
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Association of Diabetes With Atrial Fibrillation Phenotype and Cardiac and Neurological Comorbidities: Insights From the Swiss‐AF Study Academic Article
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Association of heart rate and diabetes among 0.5 million adults in the China Kadoorie biobank: Results from observational and Mendelian randomization analyses Academic Article
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Association of renal failure with lewis incompatibility after allogeneic bone marrow transplantation Academic Article
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Atherothrombosis and Thromboembolism: Position Paper from the Second Maastricht Consensus Conference on Thrombosis Academic Article
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BRCA2 Mutation-associated Breast Cancers Exhibit a Distinguishing Phenotype Based on Morphology and Molecular Profiles From Tissue Microarrays Academic Article
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
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Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables Academic Article
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Behavioral Phenotyping of Murine Disease Models with the Integrated Behavioral Station (INBEST) Academic Article
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Benefits and limitations of genome-wide association studies Academic Article
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Betaine aldehyde dehydrogenase polymorphism in spinach: Genetic and biochemical characterization Academic Article
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Beyond Autism: A Baby Siblings Research Consortium Study of High-Risk Children at Three Years of Age Academic Article
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Beyond the Brain Academic Article
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Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Academic Article
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Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype Academic Article
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Bioinformatics of antimicrobial resistance in the age of molecular epidemiology Academic Article
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Biological, clinical and population relevance of 95 loci for blood lipids Academic Article
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Birth cohorts in asthma and allergic diseases: Report of a NIAID/NHLBI/MeDALL joint workshop Academic Article
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BldD fromStreptomyces coelicoloris a non-essential global regulator that binds its own promoter as a dimer Academic Article
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Bone marrow involvement and obstructive jaundice in Farber lipogranulomatosis: clinical and autopsy report of a new case Academic Article
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Bovine serum transferrin phenotypes AA, D1D1, D2D2, EE: Their carbohydrate compositions and electrophoretic multiplicity Academic Article
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Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder Academic Article
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Brief Report: Cross-Cultural Evidence for the Heterogeneity of the Restricted, Repetitive Behaviours and Interests Domain of Autism: A Greek Study Academic Article
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Brief Report: Relationship Between Non-verbal IQ and Gender in Autism Academic Article
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CARD15 and IL23R influences Crohnʼs disease susceptibility but not disease phenotype in a Brazilian population Academic Article
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CCR3 Academic Article
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CFTR2: How will it help care? Academic Article
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CHIP Deficiency Decreases Longevity, with Accelerated Aging Phenotypes Accompanied by Altered Protein Quality Control Academic Article
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CK8/18 expression, the basal phenotype, and family history in identifying BRCA1-associated breast cancer in the Ontario site of the Breast Cancer Family Registry Academic Article
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COPD profiles and treatable traits using minimal resources: identification, decision tree and stability over time Academic Article
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Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination Academic Article
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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories Academic Article
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Cancer phenomics: RET and PTEN as illustrative models Academic Article
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Carboxypeptidase B2 and N play different roles in regulation of activated complements C3a and C5a in mice Academic Article
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Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims Academic Article
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Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease Academic Article
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Carnitine transporter defect due to a novel mutation in the SLC22A5
gene presenting with peripheral neuropathy Academic Article
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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans Academic Article
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Cataloguing and characterizing interests in typically developing toddlers and toddlers who develop
ASD Academic Article
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Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis Academic Article
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Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts Academic Article
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Causes and Consequences of Genetic Background Effects Illuminated by Integrative Genomic Analysis Academic Article
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Cellular and Molecular Regulation of Skeletal Muscle Side Population Cells Academic Article
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Cerebral amyloid angiopathy with and without hemorrhage: Evidence for different disease phenotypes Academic Article
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Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study Academic Article
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Challenges in reproducibility of genetic association studies: lessons learned from the obesity field Academic Article
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Changes in rat and human pepsinogen phenotypes induced by N′-methyl-N′nitro-n-nitrosoguanidine Academic Article
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Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease Academic Article
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Changing Paradigms in the Treatment of Severe Asthma: The Role of Biologic Therapies Academic Article
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Characteristics and determinants of T-cell phenotype normalization in HIV-1-infected individuals receiving long-term antiretroviral therapy Academic Article
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Characterization of
Streptococcus milleri
Group Isolates from Expectorated Sputum of Adult Patients with Cystic Fibrosis Academic Article
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Characterization of Human TK- Cell Lines Transformed to a TK+ Phenotype by Herpes Simplex Virus Type 2 DNA Academic Article
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Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype Academic Article
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Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1 Academic Article
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Characterization of human embryonic stem cells with features of neoplastic progression Academic Article
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Characterization of long RNA-cleaving deoxyribozymes with short catalytic cores: the effect of excess sequence elements on the outcome of in vitro selection Academic Article
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Characterizing the ASD–ADHD phenotype: measurement structure and invariance in a clinical sample Academic Article
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Cheats never prosper Academic Article
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Chemotherapeutic agents doxorubicin and epirubicin induce a procoagulant phenotype on endothelial cells and blood monocytes Conference Paper
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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders Academic Article
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Cholinergic expression by a neural stem cell line grafted to the adult medial septum/diagonal band complex Academic Article
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Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications Academic Article
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Chromosomal damage induced by human adenovirus type 12 requires expression of the E1B 55-kilodalton viral protein Academic Article
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Chronic venous abnormalities in symptomatic and asymptomatic protein C deficiency Academic Article
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Circulating TNF and mitochondrial DNA are major determinants of neutrophil phenotype in the advanced-age, frail elderly Academic Article
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Citrullinemia: Phenotypic Variations Academic Article
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Classification of Visual Cortex Plasticity Phenotypes following Treatment for Amblyopia Academic Article
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Classification of osteoarthritis phenotypes by metabolomics analysis Academic Article
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Classifying acute leukemia by immunophenotyping: a combined FAB- immunologic classification of AML Academic Article
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Claudin-Low Breast Cancer; Clinical & Pathological Characteristics Academic Article
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Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes Academic Article
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Clinical evaluation of a hemochromatosis next-generation sequencing gene panel Academic Article
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Clinical features of facioscapulohumeral muscular dystrophy 2 Academic Article
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Clinical phenotypes of three children with sickle cell disease caused by
HbS
/Sicilian (δβ)
0
‐thalassemia deletion Academic Article
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Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study Academic Article
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Academic Article
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Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study Academic Article
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Clinical, enzymatic and molecular characterization of nine new patients with malonyl‐coenzyme A decarboxylase deficiency Academic Article
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Clonal Expansion of the Pseudogymnoascus destructans Genotype in North America Is Accompanied by Significant Variation in Phenotypic Expression Academic Article
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Clonal tracking of hESCs reveals differential contribution to functional assays Academic Article
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Co-factors, Microbes, and Immunogenetics in Celiac Disease to Guide Novel Approaches for Diagnosis and Treatment Academic Article
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Co-operative roles for E-cadherin and N-cadherin during lens vesicle separation and lens epithelial cell survival Academic Article
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Cofilin Nuclear-Cytoplasmic Shuttling Affects Cofilin-Actin Rod Formation During Stress Academic Article
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Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development Academic Article
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Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease Academic Article
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Common variants near BDNF and SH2B1 show nominal evidence of association with snacking behavior in European populations Academic Article
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Commonalities in the Features of Cancer and Chronic Fatigue Syndrome (CFS): Evidence for Stress-Induced Phenotype Instability? Academic Article
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Comparative Genetics of the rdar Morphotype in
Salmonella Academic Article
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Comparative analysis of function and interaction of transcription factors in nematodes: Extensive conservation of orthology coupled to rapid sequence evolution Academic Article
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Comparison of Standardization Methods for the Harmonization of Phenotype Data: An Application to Cognitive Measures Academic Article
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Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons Academic Article
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Complex Pseudomonas Population Structure in Cystic Fibrosis Airway Infections Academic Article
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Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma Academic Article
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Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients Academic Article
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Comprehensive identification of pleiotropic loci for body fat distribution using the NHGRI‐EBI Catalog of published genome‐wide association studies Academic Article
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Academic Article
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Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population Academic Article
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Condition dependence and the nature of genetic variation for male sex comb bristle number in Drosophila melanogaster Academic Article
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Conditional Deletion of AP-2β in the Periocular Mesenchyme of Mice Alters Corneal Epithelial Cell Fate and Stratification Academic Article
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Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the -subunit of cone specific transducin (GNAT2) Academic Article
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Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development
Academic Article
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Contraception: Endometrial lymphomyeloid cells in abnormal uterine bleeding due to levonorgestrel (Norplant) Academic Article
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Contribution of 24 obesity-associated genetic variants to insulin resistance, pancreatic beta-cell function and type 2 diabetes risk in the French population Academic Article
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Contribution of Large Region Joint Associations to Complex Traits Genetics Academic Article
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Copy number variation in metabolic phenotypes Academic Article
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Cortical Serotonin Type-2 Receptor Density in Parents of Children with Autism Spectrum Disorders Academic Article
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Cryptic Genetic Variation in Natural Populations: A Predictive Framework Academic Article
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Cutting Edge Issues in the Churg–Strauss Syndrome Academic Article
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Cystathioninuria and Renal Iminoglycinuria in a Pedigree Academic Article
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Cystinuria: Increased Prevalence in Patients with Mental Disease Academic Article
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Cytogenetic survey of a hospital for the mentally retarded Academic Article
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Cytokine responses of peripheral blood mononuclear cells to allergen do not identify asthma or asthma phenotypes Academic Article
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DHCR7 and Smith-Lemli-Opitz syndrome. Academic Article
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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome Academic Article
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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Academic Article
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DNA methyltransferase 3a mediates developmental thermal plasticity Academic Article
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DNA-mediated transfer of herpes simplex virus TK gene to human TK- cells: properties of the transformed lines. Academic Article
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DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients Academic Article
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Data-driven cognitive phenotypes in subjects with bipolar disorder and their clinical markers of severity Academic Article
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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy Academic Article
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De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European Academic Article
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Decoding ‘Unnecessary Complexity’: A Law of Complexity and a Concept of Hidden Variation Behind “Missing Heritability” in Precision Medicine Academic Article
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Decomposing the autism phenotype into familial dimensions Academic Article
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Defining Aging Phenotypes and Related Outcomes: Clues to Recognize Frailty in Hospitalized Older Patients Academic Article
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene Academic Article
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Defining vascular anomaly phenotypes in children based on a systematic literature search: A critical step in developing a single severity score for interventional clinical trials Academic Article
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Delayed prezygotic isolating mechanisms: evolution with a twist Academic Article
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Deletion 3q in Two Patients With Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES) Academic Article
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly Academic Article
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Deletion of Myeloid GSK3α Attenuates Atherosclerosis and Promotes an M2 Macrophage Phenotype Academic Article
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Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy? Academic Article
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Demystifying phenotypes: The comparative genomics of evo-devo Academic Article
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Dendritic Cells Derived from Murine Colonic Mucosa Have Unique Functional and Phenotypic Characteristics Academic Article
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Derivation and Initial Validation of Clinical Phenotypes of Children Presenting with Concussion Acutely in the Emergency Department: Latent Class Analysis of a Multi-Center, Prospective Cohort, Observational Study Academic Article
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Development of Retinoblastoma in the Absence of Telomerase Activity Academic Article
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Development of a low-cost, user-customizable, high-speed camera Academic Article
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Developmental Systems Drift and the Drivers of Sex Chromosome Evolution Academic Article
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Developmental delay in shivering limits thermogenic capacity in juvenile high-altitude deer mice (Peromyscus maniculatus) Academic Article
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Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant Academic Article
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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan Academic Article
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Diagnosis of Autism Spectrum Disorder After Age 5 in Children Evaluated Longitudinally Since Infancy Academic Article
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Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH Academic Article
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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions Academic Article
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Diagnostic shifts in autism spectrum disorder can be linked to the fuzzy nature of the diagnostic boundary: a data‐driven approach Academic Article
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Dietary nitrate restores compensatory vasodilation and exercise capacity in response to a compromise in oxygen delivery in the noncompensator phenotype Academic Article
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Differences between Syrian Hamster Strains in Natural Killer Cell Activity Induced by Infection with Pichinde Virus Academic Article
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Differences in lymphocyte responsiveness to lymphokines in two inbred strains of Syrian hamster. Academic Article
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Differentiation of Human Basophils and Mast Cells Academic Article
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Diphtheria toxin resistance in chinese hamster cells: Genetic and biochemical characteristics of the mutants affected in protein synthesis Academic Article
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Diphtheria-toxin-resistant mutants of CHO cells affected in protein synthesis: A novel phenotype Academic Article
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Disconnect between sputum neutrophils and other measures of airway inflammation in asthma Academic Article
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Discordance analysis of Apolipoprotein B and non-high density lipoprotein cholesterol as markers of cardiovascular risk in the INTERHEART study Academic Article
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Discovering cooperative traits in crop plants Academic Article
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Disintegrating the fly: A mutational perspective on phenotypic integration and covariation Academic Article
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Academic Article
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Distinct Mechanisms of Action of theLozengeLocus inDrosophilaEye and Antennal Development are Suggested by the Analysis of Dominant Enhancers Academic Article
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Distinct Phenotype Clusters in Childhood Inflammatory Brain Diseases: Implications for Diagnostic Evaluation Academic Article
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Distinct Phenotypic Adhesion Molecule Expression on Human Cord Blood Progenitors During Early Eosinophilic Commitment: Upregulation of β7Integrins Academic Article
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Distribution and Characteristics of
Listeria monocytogenes
Isolates from Surface Waters of the South Nation River Watershed, Ontario, Canada Academic Article
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Distribution and prevalence of leukocyte phenotypes in brains of lupus-prone mice Academic Article
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Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
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Diverse Evolutionary Trajectories Characterize a Community of RNA-Cleaving Deoxyribozymes: A Case Study into the Population Dynamics of In Vitro Selection Academic Article
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Diverse hematological phenotypes of β-thalassemia carriers Academic Article
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Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Academic Article
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Do mice bred selectively for high locomotor activity have a greater reliance on lipids to power submaximal aerobic exercise? Academic Article
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Does Integration of Various Ion Channel Measurements Improve Diagnostic Performance in Cystic Fibrosis? Academic Article
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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Academic Article
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Does the clinical presentation and extent of venous thrombosis predict likelihood and type of recurrence? A patient‐level meta‐analysis Academic Article
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Does your gene need a background check? How genetic background impacts the analysis of mutations, genes, and evolution Academic Article
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Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases Academic Article
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Dual molecular diagnoses in a neurometabolic specialty clinic Academic Article
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Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44 Academic Article
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Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis Academic Article
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EAACI Biologicals Guidelines—Recommendations for severe asthma Academic Article
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EXPERIMENTAL EVOLUTION OF THE CAENORHABDITIS ELEGANS SEX DETERMINATION PATHWAY Academic Article
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Early Life Exposure to Fructose and Offspring Phenotype: Implications for Long Term Metabolic Homeostasis Academic Article
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Early and lethal neurodegeneration with myasthenic and myopathic features Academic Article
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Early infancy microbial and metabolic alterations affect risk of childhood asthma Academic Article
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Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Academic Article
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Effect of chronic contractile activity on mRNA stability in skeletal muscle Academic Article
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Effect of the Factor V Leiden Mutation on the Clinical Expression of Severe Hemophilia A Academic Article
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Effects of Dystrophin Isoforms on Signal Transduction through Neural Retina: Genotype–Phenotype Analysis of Duchenne Muscular Dystrophy Mouse Mutants Academic Article
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Effects of Maternal Dexamethasone Treatment Early in Pregnancy on Glucocorticoid Receptors in the Ovine Placenta Academic Article
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Effects of a Short Course of Inhaled Corticosteroids in Noneosinophilic Asthmatic Subjects Academic Article
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Effects of lifelong testosterone exposure on health and disease using Mendelian randomization Academic Article
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Effects of misclassification on estimates of relative risk in family history studies Academic Article
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Effects of rearing environment on adrenal weights, sexual development, and behavior in gerbils: An examination of Richter's domestication hypothesis. Academic Article
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Elbow and Noc define a family of zinc finger proteins controlling morphogenesis of specific tracheal branches Academic Article
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Electrocution-induced Brugada phenocopy Academic Article
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Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies Conference Paper
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Embryonic and Neonatal Phenotyping of Genetically Engineered Mice Academic Article
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Embryonic critical windows: changes in incubation temperature alter survival, hatchling phenotype, and cost of development in lake whitefish (Coregonus clupeaformis) Academic Article
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Endothelial cell tumors develop in transgenic mice carrying polyoma virus middle T oncogene Academic Article
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Environmental influence on development, behavior, and endocrine morphology of gerbils Academic Article
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Environmental variation impacts trait expression and selection in the legume–rhizobium symbiosis Academic Article
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Eosinophilic Asthma Academic Article
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Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy Academic Article
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Epidermal hyperplasia and expansion of the interfollicular stem cell compartment in mutant mice with a C-terminal truncation of Patched1 Academic Article
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Epigenomic alterations define lethal CIMP-positive ependymomas of infancy Academic Article
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Epinephrine causes a reduction in lymph node cell output in sheep Academic Article
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Epithelial-Restricted Gene Profile of Primary Cultures from Human Prostate Tumors: A Molecular Approach to Predict Clinical Behavior of Prostate Cancer Academic Article
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Evaluation of A2BP1 as an Obesity Gene Academic Article
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Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the
KCND2
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Evaluation of an automated immunoassay procedure for APO-LDL for phenotyping type II hyperlipoproteinemia Academic Article
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Evaluation of the Disease Liability of CFTR Variants Academic Article
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Evidence that Herpes Simplex Virus VP16 Is Required for Viral Egress Downstream of the Initial Envelopment Event Academic Article
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Evolution of
Drosophila
sex comb length illustrates the inextricable interplay between selection and variation Academic Article
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Evolution of sociability by artificial selection
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Evolutionary loss of the rdar morphotype in Salmonella as a result of high mutation rates during laboratory passage Academic Article
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Evolutionary rates for multivariate traits: the role of selection and genetic variation Academic Article
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Exaggerated Trait Growth in Insects Academic Article
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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia Academic Article
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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA Academic Article
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Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome Academic Article
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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Academic Article
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Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase Academic Article
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Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase Academic Article
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Exploring sensory phenotypes in autism spectrum disorder Academic Article
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Expression of a Mutation Causing Hypertrophic Cardiomyopathy Disrupts Sarcomere Assembly in Adult Feline Cardiac Myocytes Academic Article
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Expression of delayed toxicity and lethal mutations in the progeny of human cells surviving exposure to radiation and other environmental mutagens Conference Paper
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Expression of the adenovirus E1A oncogene during cell transformation is sufficient to induce susceptibility to lysis by host inflammatory cells. Academic Article
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External validation of the FIRST trial’s simplified frailty score in a population-based cohort Academic Article
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Extremes of Unexplained Variation as a Phenotype Academic Article
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FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects Academic Article
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Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene Academic Article
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Factors independently associated with cardiac troponin I levels in young and healthy adults from the general population Academic Article
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Fanconi’s Anemia Effect or Sickle Cell Anemia Effect: That is the Question Academic Article
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Fast spin-echo for multiple mouse magnetic resonance phenotyping Academic Article
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Female Choice or Male Sex Drive? The Advantages of Male Body Size during Mating in Drosophila Melanogaster Academic Article
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Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans Academic Article
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Fetal hemoglobin in sickle cell anemia: a glass half full? Academic Article
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Fish Oil Supplementation in Pregnancy Modifies Neonatal Progenitors at Birth in Infants at Risk of Atopy Academic Article
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Fitness consequences of plants growing with siblings: reconciling kin selection, niche partitioning and competitive ability Academic Article
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Fitness distribution and transgressive segregation across 40 environments in a hybrid progeny population of the human-pathogenic yeastCryptococcus neoformans Academic Article
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Flight muscle and heart phenotypes in the high-flying ruddy shelduck Academic Article
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Fluctuation domains in adaptive evolution Academic Article
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Fluoroquinolone Resistance in Clinical Isolates of
Streptococcus pneumoniae
: Contributions of Type II Topoisomerase Mutations and Efflux to Levels of Resistance Academic Article
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Formation of biofilms under phage predation: considerations concerning a biofilm increase Academic Article
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Frailty and Fracture, Disability, and Falls: A Multiple Country Study From the Global Longitudinal Study of Osteoporosis in Women Academic Article
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Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Academic Article
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Functional Enterospheres Derived In Vitro from Human Pluripotent Stem Cells Academic Article
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Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing
ZNF462 Academic Article
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Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients Academic Article
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GLI3 Repressor Controls Nephron Number via Regulation of Wnt11 and Ret in Ureteric Tip Cells Academic Article
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GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6DEPENDENCY WITH SEIZURES Academic Article
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GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia Academic Article
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Academic Article
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Gene Dispensability in Escherichia coli Grown in Thirty Different Carbon Environments Academic Article
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Gene regulatory networks and the role of robustness and stochasticity in the control of gene expression Academic Article
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Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci Academic Article
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Genetic Analysis of Mutations Affecting pckA Regulation in Rhizobium (Sinorhizobium) meliloti Academic Article
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Genetic Control of Vulval Development inCaenorhabditis briggsae Academic Article
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Genetic Etiology of Isolated Low HDL Syndrome Academic Article
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Genetic Factors and Genotype-Environment Interactions Contribute to Variation in Melanin Production in the Fungal Pathogen Cryptococcus neoformans Academic Article
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Genetic Modifiers of Lung Disease in Cystic Fibrosis Academic Article
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Genetic Testing in the Evaluation of Unexplained Cardiac Arrest Academic Article
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Genetic Variants Associated With Myocardial Infarction Risk Factors in Over 8000 Individuals From Five Ethnic Groups Academic Article
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Genetic Variation, Simplicity, and Evolutionary Constraints for Function-Valued Traits Academic Article
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Genetic analysis indicates that transcription factors AP-2alpha and Pax6 cooperate in the normal patterning and morphogenesis of the lens. Academic Article
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Genetic and Chemical Screening in Human Blood Serum Reveals Unique Antibacterial Targets and Compounds against Klebsiella pneumoniae Academic Article
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Genetic and Neurodevelopmental Influences in Autistic Disorder Academic Article
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Genetic and biochemical studies with the adenosine analogs toyocamycin and tubercidin: Mutation at the adenosine kinase locus in Chinese hamster cells Academic Article
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Genetic and environmental canalization are not associated among altitudinally varying populations of
Drosophila melanogaster Academic Article
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Genetic and phenotypic determinants of blood pressure and other cardiovascular risk factors (GAPP) Academic Article
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Genetic and physical analyses of group E exo- mutants of Rhizobium meliloti Academic Article
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Genetic bases of hypertriglyceridemic phenotypes Academic Article
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Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair Academic Article
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Genetic identification of effectors downstream of Neu (ErbB-2) autophosphorylation sites in a Drosophila model Academic Article
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Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene-based tests, genome-wide variation, and SNP heritability Academic Article
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Genetic, structural and clinical analysis of spastic paraplegia 4 Academic Article
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Genetically decreased vitamin D and risk of Alzheimer disease Academic Article
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Genetically modified dendritic cells prime autoreactive T cells through a pathway independent of CD40L and interleukin 12: implications for cancer vaccines. Academic Article
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Genetics, Morphology, Advertisement Calls, and Historical Records Distinguish Six New Polyploid Species of African Clawed Frog (Xenopus, Pipidae) from West and Central Africa Academic Article
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Genome duplication events have led to a diversification in the CPT I gene family in fish Academic Article
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Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias Academic Article
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Genome-Wide Association Studies across Environmental and Genetic Contexts Reveal Complex Genetic Architecture of Symbiotic Extended Phenotypes Academic Article
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Genome-Wide Association Studies of Hypertension: Have They Been Fruitful? Academic Article
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Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics Academic Article
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Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes Academic Article
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Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q Academic Article
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Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2 Academic Article
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Genome-wide association study of alcohol use disorder identification test (AUDIT) scores in 20 328 research participants of European ancestry Academic Article
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Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets Academic Article
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Genome-wide meta-analyses identify multiple loci associated with smoking behavior Academic Article
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture Academic Article
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Genomes within genomes: nested symbiosis and its implications for plant evolution Academic Article
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Genomewide Association Studies: History, Rationale, and Prospects for Psychiatric Disorders Academic Article
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Genomic approaches to bleeding disorders Conference Paper
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Genotype and phenotype in 12 additional individuals with SATB2
-associated syndrome Academic Article
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Genotype-by-environment interactions for cuticular hydrocarbon expression inDrosophila simulans Academic Article
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Genotype-guided versus standard vitamin K antagonist dosing algorithms in patients initiating anticoagulation Academic Article
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Genotypes and immunophenotypes of Hodgkin's disease-derived cell lines. Academic Article
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Genotypes, phenotypes and whole genome sequence: Approaches from theMy Life Our Futurehaemophilia project Academic Article
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Geriatric Assessment and Frailty Scores Predict Mortality in Myeloma: Systematic Review and Meta-analysis Academic Article
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Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer Academic Article
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Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes Academic Article
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Glycoproteins E and I facilitate neuron-to-neuron spread of herpes simplex virus Academic Article
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Gross motor problems and psychiatric disorders in children Academic Article
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Growth inhibition of prostate cancer xenografts by halofuginone Academic Article
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Guanosine-induced decrease in side population of lung cancer cells: lack of correlation with ABCG2 expression. Academic Article
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Gut commensal microvesicles reproduce parent bacterial signals to host immune and enteric nervous systems Academic Article
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HDACi Delivery Reprograms Tumor-Infiltrating Myeloid Cells to Eliminate Antigen-Loss Variants Academic Article
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HL-A genotype of patients with acute lymphoblastic leukaemia Academic Article
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HLA-A,B,C and B-lymphocyte alloantigens in insulin-dependent diabetes. Academic Article
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Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family Academic Article
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Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an -thalassemia phenotype Academic Article
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Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family Academic Article
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Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the locus control region Academic Article
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Hb S/β°-Thalassemia due to the ˜1.4-kb deletion is associated with a relatively mild phenotype Academic Article
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Helper-dependent adenoviral vectors mediate therapeutic factor VIII expression for several months with minimal accompanying toxicity in a canine model of severe hemophilia A Academic Article
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Hemoglobin E-β-Thalassemia: Progress Report from the International Study Group Conference Paper
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Hemoglobin E/beta Thalassemia: The Canadian Experience Academic Article
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Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood. Academic Article
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Heparin binds to human monocytes and modulates their procoagulant activities and secretory phenotypes. Effects of histidine-rich glycoprotein Academic Article
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Heterogeneity in phenotypic and genotypic characteristics among strains of Hafnia alvei Academic Article
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Heterogeneity of serum cholinesterase Academic Article
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Heterogeneous Proliferative Characteristics of Human Adult Lung Fibroblast Lines and Clonally Derived Fibroblasts from Control and Fibrotic Tissue Academic Article
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Heterologous Complementation Reveals a Specialized Activity for BacA in the Medicago–Sinorhizobium meliloti Symbiosis Academic Article
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High phenotypic correlations among siblings with autism and pervasive developmental disorders Academic Article
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High-altitude ancestry and hypoxia acclimation have distinct effects on exercise capacity and muscle phenotype in deer mice Academic Article
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Histidine-rich glycoprotein: is there a role in hemostasis or immune function? Academic Article
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How to Diagnose and Phenotype Asthma Academic Article
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How to Use an Article About Genetic Association Academic Article
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How well do you know your mutation? Complex effects of genetic background on expressivity, complementation, and ordering of allelic effects Academic Article
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Human Adipose Tissue Macrophages Display Activation of Cancer-related Pathways Academic Article
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Human Embryonic Stem Cell-Derived Hematopoietic Cells Maintain Core Epigenetic Machinery of the Polycomb Group/Trithorax Group Complexes Distinctly from Functional Adult Hematopoietic Stem Cells Academic Article
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Human acute myeloid leukemia stem cells Academic Article
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Hundreds of variants clustered in genomic loci and biological pathways affect human height Academic Article
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Hybridization in human evolution: Insights from other organisms Academic Article
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Hybrids and hybridization in the Cryptococcus neoformans and Cryptococcus gattii species complexes Academic Article
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Hypertriglyceridemic Waist Phenotype and Chronic Kidney Disease in a Chinese Population Aged 40 Years and Older Academic Article
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Hypoxia inducible factor (HIF)-2α is required for the development of the catecholaminergic phenotype of sympathoadrenal cells Academic Article
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IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE Academic Article
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IL-15 has innate anti-tumor activity independent of NK and CD8 T cells Academic Article
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Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Academic Article
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Identification of Direct p73 Target Genes Combining DNA Microarray and Chromatin Immunoprecipitation Analyses Academic Article
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Identification of Genetic Loci Underlying the Phenotypic Constructs of Autism Spectrum Disorders Academic Article
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Identification of Novel Causal Blood Biomarkers Linking Metabolically Favorable Adiposity With Type 2 Diabetes Risk Academic Article
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Identification of QTLs Associated with Virulence Related Traits and Drug Resistance in Cryptococcus neoformans Academic Article
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Identification of a cancer stem cell in human brain tumors. Academic Article
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Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism Academic Article
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Identification of hemoglobin E by the isopropanol solubility test Academic Article
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Identification of older adults with frailty in the Emergency Department using a frailty index: results from a multinational study Academic Article
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Identification of two novel loss-of-function SIM1
mutations in two overweight children with developmental delay Academic Article
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Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Academic Article
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Identifying pain susceptibility phenotypes in knee osteoarthritis. Academic Article
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Immobilization of Intact Phage and Phage-Derived Proteins for Detection and Biocontrol Purposes Chapter
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Immune Biomarkers Predictive of Respiratory Viral Infection in Elderly Nursing Home Residents Academic Article
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Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors Academic Article
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Impact of Growth Hormone Supplementation on Adult Height in Turner Syndrome: Results of the Canadian Randomized Controlled Trial Academic Article
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Impact of Treadmill Running and Sex on Hippocampal Neurogenesis in the Mouse Model of Amyotrophic Lateral Sclerosis Academic Article
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Impaired alternative macrophage differentiation of peripheral blood mononuclear cells from obese subjects Academic Article
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Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population Academic Article
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Important research questions in allergy and related diseases: nonallergic rhinitis: a GA2LEN paper Academic Article
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Impulsivity-based thrifty eating phenotype and the protective role of n-3 PUFAs intake in adolescents Academic Article
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In Vivo Generation of Neural Tumors from Neoplastic Pluripotent Stem Cells Models Early Human Pediatric Brain Tumor Formation Academic Article
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Inattention and hyperactive/impulsive component scores do not differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder in a clinical sample Academic Article
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Inclusive fitness theory and eusociality Academic Article
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Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull Academic Article
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Individual Cryptic Scaling Relationships and the Evolution of Animal Form Conference Paper
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Individual susceptibility to hypoperfusion and reductions in exercise performance when perfusion pressure is reduced: evidence for vasodilator phenotypes Academic Article
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Individuality in Bacteria Academic Article
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Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years Academic Article
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Influenza virus H1N1 activates platelets through FcγRIIA signaling and thrombin generation Academic Article
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Informative phenotypes for genetic studies of psychiatric disorders Academic Article
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Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis Academic Article
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Inhibition inversion in the AACC selected method for serum cholinesterase. Academic Article
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Innate Immune Cytokines, Fibroblast Phenotypes, and Regulation of Extracellular Matrix in Lung Academic Article
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Insights From Invasive Cardiopulmonary Exercise Testing of Patients With Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Conference Paper
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Insights into the Development and Evolution of Exaggerated Traits Using De Novo Transcriptomes of Two Species of Horned Scarab Beetles Academic Article
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Integrative Physiology: At the Crossroads of Nutrition, Microbiota, Animal Physiology, and Human Health Academic Article
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Integrins Regulate Responsiveness to Slit Repellent Signals Academic Article
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Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study Academic Article
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International ERS/ATS guidelines on definition, evaluation and treatment of severe asthma Academic Article
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Intracerebral haemorrhage in previously healthy adults following aerobic and anaerobic exercise Academic Article
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Intraepithelial leukocytes contain a unique subpopulation of NK-like cytotoxic cells active in the defense of gut epithelium to enteric murine coronavirus. Academic Article
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Intragenic suppression of integration-defective IS10 transposase mutants. Academic Article
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Intrauterine position effects on sexually dimorphic asymmetries of Mongolian gerbils: Testosterone, eye opening, and paw preference Academic Article
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Intravenous (IV) anti-D and IV immunoglobulin achieve acute platelet increases by different mechanisms: modulation of cytokine and platelet responses to IV anti-D by Fcγ
RIIa and Fcγ
RIIIa polymorphisms Academic Article
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Intrinsic reproductive isolating mechanisms in the maintenance of a hybrid zone between ecologically divergent subspecies Academic Article
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Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study Academic Article
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Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach Academic Article
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Invited Commentary: Consolidating Data Harmonization--How to Obtain Quality and Applicability? Academic Article
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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Academic Article
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Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Academic Article
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K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population Academic Article
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Krüppel-like factor 1: hematologic phenotypes associated withKLF1gene mutations Academic Article
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Lack of Both Types 1 and 2 Cytokines, Tissue Inflammatory Responses, and Immune Protection During Pulmonary Infection byMycobacterium bovisBacille Calmette-Guérin in IL-12-Deficient Mice Academic Article
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Large meta-analysis of genome-wide association studies identifies five loci for lean body mass Academic Article
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Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci Academic Article
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Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3
mutation Academic Article
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Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2 Academic Article
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Lengthened G1 Phase Indicates Differentiation Status in Human Embryonic Stem Cells Academic Article
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Letter to the Editor Academic Article
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Life history predicts flight muscle phenotype and function in birds Academic Article
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Lifetime selection on a hypoallometric size trait in the spotted hyena Academic Article
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Limited plasticity in the phenotypic variance-covariance matrix for male advertisement calls in the black field cricket,Teleogryllus commodus Academic Article
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Longitudinal Data Analysis in Genome-Wide Association Studies Academic Article
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Loss of Kaiso expression in breast cancer cells prevents intra-vascular invasion in the lung and secondary metastasis Academic Article
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Loss-of-Function
KCNE2
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Loss-of-Function Mutations in MC4R Are Very Rare in the Greek Severely Obese Adult Population Academic Article
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Lung clearance index predicts persistence of preschool wheeze Academic Article
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Ly6Chi Monocytes Direct Alternatively Activated Profibrotic Macrophage Regulation of Lung Fibrosis Academic Article
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Lys 42/43/44 and Arg 12 of thrombin-activable fibrinolysis inhibitor comprise a thrombomodulin exosite essential for its antifibrinolytic potential Academic Article
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M2-polarized and tumor-associated macrophages alter NK cell phenotype and function in a contact-dependent manner Academic Article
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MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review Academic Article
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Machine learning and big data analytics in bipolar disorder: A position paper from the International Society for Bipolar Disorders Big Data Task Force Academic Article
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Magnetic resonance imaging for detection and analysis of mouse phenotypes Academic Article
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Mammosphere-forming cells from breast cancer cell lines as a tool for the identification of CSC-like- and early progenitor-targeting drugs Academic Article
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Manganese Superoxide Dismutase Levels Are Elevated in a Proportion of Amyotrophic Lateral Sclerosis Patient Cell Lines Academic Article
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Academic Article
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Mast cell heterogeneity: derivation and function, with emphasis on the intestine Academic Article
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Maternal High-Fat Diet-Induced Loss of Fetal Oocytes Is Associated with Compromised Follicle Growth in Adult Rat Offspring1 Academic Article
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Maternal Undernutrition Significantly Impacts Ovarian Follicle Number and Increases Ovarian Oxidative Stress in Adult Rat Offspring Academic Article
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Matrix Metalloproteinases are required for membrane motility and lumenogenesis during Drosophila heart development Academic Article
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Matrix abnormalities in pulmonary fibrosis Academic Article
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Measurement equivalence of the autism symptom phenotype in children and youth Academic Article
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Mechanisms and therapeutic strategies for non‐T2 asthma Academic Article
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Mechanisms of dyspnoea relief following radiation treatment in a patient with severe COPD Academic Article
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Mechanisms of innate immune activation by gluten peptide p31-43 in mice Academic Article
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Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease Academic Article
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Mesectodermal cell fate analysis in Drosophila midline mutants Academic Article
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Metabolic modelling reveals the specialization of secondary replicons for niche adaptation in Sinorhizobium meliloti Academic Article
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Metformin-induced metabolic reprogramming of chemoresistant ALDHbright breast cancer cells Academic Article
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Mice with a Targeted Mutation of
Patched2
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Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability Academic Article
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Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A) Academic Article
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Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates Academic Article
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Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities Academic Article
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Modeling the Phenotypic Architecture of Autism Symptoms from Time of Diagnosis to Age 6 Academic Article
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Modulation of phenotypic and functional maturation of dendritic cells by intestinal bacteria and gliadin: relevance for celiac disease Academic Article
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Modulation of the Anchorage-Independent Phenotype of Human Lung Fibroblasts Obtained from Fibrotic Tissue Following Culture with Retinoid and Corticosteroid Academic Article
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Modulation of the Phenotypic Expression of a Human Serine tRNA Gene by 5′-Flanking Sequences Academic Article
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Molecular Diagnosis of Myopathies Academic Article
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder Academic Article
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
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Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Academic Article
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Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1
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Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects Academic Article
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Mothering begets mothering Academic Article
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Mouse models of immune dysfunction: their neuroanatomical differences reflect their anxiety-behavioural phenotype Academic Article
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Moving the dial on identifying endotypes of asthma from early life Academic Article
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Moyamoya Disease Susceptibility Variant
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Multidimensional latent structure of risk-related phenotypes in healthy young adults. Academic Article
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Multiparameter comparisons of embryoid body differentiation toward human stem cell applications Academic Article
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Multiple interactions between SRm160 and SR family proteins in enhancer-dependent splicing and development of C. elegans Academic Article
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Multivariate analysis of complex gene expression and clinical phenotypes with genetic marker data Academic Article
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Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy Academic Article
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Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype Academic Article
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy Academic Article
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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly Academic Article
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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome Academic Article
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Mutations in the genestand still disrupt germ cell differentiation inDrosophila ovaries Academic Article
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Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants Academic Article
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Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency Academic Article
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Mutual regulation of the Drosophila disconnected (disco) and Distal-less (Dll) genes contributes to proximal-distal patterning of antenna and leg Academic Article
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Mycobacteria and human heat shock protein—specific cytotoxic t lymphocytes in rheumatoid synovial inflammation Academic Article
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Myeloid dendritic cells type 2 in allergic asthma Conference Paper
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Myostatin promotes a fibrotic phenotypic switch in multipotent C3H 10T1/2 cells without affecting their differentiation into myofibroblasts Academic Article
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NADP+ -dependent malic enzyme of Rhizobium meliloti Academic Article
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NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population Academic Article
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NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence Academic Article
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NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases Academic Article
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Naked but Not Hairless: The Pitfalls of Analyses of Molecular Adaptation Based on Few Genome Sequence Comparisons Academic Article
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Natural history and genotype‐phenotype correlations in 72 individuals with
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Nature, nurture or nutrition? Impact of maternal nutrition on maternal care, offspring development and reproductive function Academic Article
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Negative regulation of sigma 54-dependent dctA expression by the transcriptional activator DctD Academic Article
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Neural stem cells from protein tyrosine phosphatase sigma knockout mice generate an altered neuronal phenotype in culture Academic Article
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Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Academic Article
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Neuronal loss and β-amyloid removal in the amygdala of people with Down syndrome☆ Academic Article
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome Academic Article
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New interventions in asthma including bronchial thermoplasty Academic Article
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New treatment paradigms for ADPKD: moving towards precision medicine Academic Article
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Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia Academic Article
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Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin Academic Article
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Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene Academic Article
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Novel Drug Targets for Ischemic Stroke Identified Through Mendelian Randomization Analysis of the Blood Proteome Academic Article
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Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease Academic Article
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Phenomics: expanding the role of clinical evaluation in genomic studies. Academic Article
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Phenotypic Classification of preterm Birth Among Multiparous Women: A Population-Based Cohort Study Academic Article
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Phenotypic Heterogeneity of Pseudomonas aeruginosa Populations in a Cystic Fibrosis Patient Academic Article
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Phenotypic Overlap Between Core Diagnostic Features and Emotional/Behavioral Problems in Preschool Children with Autism Spectrum Disorder Academic Article
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Phenotypic selection on leaf ecophysiological traits in
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Phenotypic selection on leaf water use efficiency and related ecophysiological traits for natural populations of desert sunflowers Academic Article
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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Academic Article
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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Academic Article
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Phenotypic variability of CMT4C in a French-Canadian kindred Academic Article
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Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype Academic Article
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Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Academic Article
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Population Genetics Without Intraspecific Data Academic Article
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Population-Based Study to Determine the Health System Costs of Using the 21-Gene Assay Academic Article
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Predictive power of individual genetic and environmental factor scores Academic Article
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Pregnancy and Birth Complications in Autism and Liability to the Broader Autism Phenotype Academic Article
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Probability genotype imputation method and integrated weighted lasso for QTL identification Academic Article
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Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes Academic Article
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Progressive fibrosing interstitial lung disease: treatable traits and therapeutic strategies Academic Article
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Proline auxotrophy in Sinorhizobium meliloti results in a plant-specific symbiotic phenotype Academic Article
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Prolongation of Brainstem Auditory-Evoked Responses in Autistic Probands and Their Unaffected Relatives Academic Article
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Protein arginine methyltransferase expression, localization, and activity during disuse-induced skeletal muscle plasticity Academic Article
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Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB Academic Article
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Quantitative genetics of larval life-history traits in Rana temporaria in different environmental conditions Academic Article
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Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months Academic Article
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RETRACTED ARTICLE:Exercise-induced mitochondrial p53
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RNA-Seq effectively monitors gene expression in Eutrema salsugineum plants growing in an extreme natural habitat and in controlled growth cabinet conditions Academic Article
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Relationship between obesity severity, metabolic status and cardiovascular disease in obese adults Academic Article
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Relevance of Birth Cohorts to Assessment of Asthma Persistence Academic Article
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Repellent Signaling by Slit Requires the Leucine-Rich Repeats Academic Article
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Replication of an Egfr-Wing Shape Association in a Wild-Caught Cohort of Drosophila melanogaster Academic Article
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Repopulation of ?0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction Academic Article
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Report of the first patient with a homozygous
OTUD7A
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Resistance Exercise–induced Changes in Muscle Phenotype Are Load Dependent Academic Article
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Resveratrol induces expression of the slow, oxidative phenotype in mdx mouse muscle together with enhanced activity of the SIRT1-PGC-1α axis Academic Article
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Reverse translation of major depressive disorder symptoms: A framework for the behavioural phenotyping of putative biomarkers Academic Article
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Review of aspirin and clopidogrel resistance in peripheral arterial disease Academic Article
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Revisiting the evolutionary origins of obesity: lazy versus peppy-thrifty genotype hypothesis Academic Article
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RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype Academic Article
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Robustness of the BMP morphogen gradient in Drosophila embryonic patterning Academic Article
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Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence Academic Article
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Role of transient receptor potential canonical 6 (TRPC6) in non-transferrin-bound iron uptake in neuronal phenotype PC12 cells Academic Article
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SASP mediates chemoresistance and tumor-initiating-activity of mesothelioma cells Academic Article
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Academic Article
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Season of Birth and Dopamine Receptor Gene Associations with Impulsivity, Sensation Seeking and Reproductive Behaviors Academic Article
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Second site mutations specifically suppress the Fix- phenotype of Rhizobium meliloti ndvF mutations on alfalfa: identification of a conditional ndvF-dependent mucoid colony phenotype. Academic Article
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Second symbiotic megaplasmid in Rhizobium meliloti carrying exopolysaccharide and thiamine synthesis genes Academic Article
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Segregating patterns of copy number variations in extended autism spectrum disorder (
ASD
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Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma Academic Article
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Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 Academic Article
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Sex Differences in Children with Autism Spectrum Disorder Identified Within a High-Risk Infant Cohort Academic Article
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Sex differences in skeletal muscle Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) levels: A cross-sectional study Academic Article
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Sexual dimorphism in the glucose homeostasis phenotype of the Aromatase Knockout (ArKO) mice Academic Article
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Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies Academic Article
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Short-coupled ventricular fibrillation represents a distinct phenotype among latent causes of unexplained cardiac arrest: a report from the CASPER registry Academic Article
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Sickle cell disease: no longer a single gene disorder Academic Article
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TGF-β1 gene transfer to the mouse colon leads to intestinal fibrosis Academic Article
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Temperament influences the relationship between symptom severity and adaptive functioning in children with autism spectrum disorder Academic Article
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Temperature- and exercise-induced gene expression and metabolic enzyme changes in skeletal muscle of adult zebrafish (Danio rerio) Academic Article
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