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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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2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS Academic Article
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242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread Academic Article
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45,X/46,XY mosaicism confined to amnion in a stillborn 46,XY male with IUGR. Conference Paper
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46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Academic Article
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67. Immune cell phenotypes and cytokine response in a mouse model of sialidase deficiency Conference Paper
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68. Impact of tumor necrosis factor-alpha deletion on astrolgliosis and microgliosis in the CNS of Sandhoff mice Conference Paper
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A 9 nt deletion in mt DNA in 2 siblings with pervasive developmental disorder (PDD) and mitochondrial myopathy. Conference Paper
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A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families Academic Article
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A DNA marker closely linked to the factor IX (haemophilia B) gene Academic Article
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A Genetic Study of the Ghrelin and Growth Hormone Secretagogue Receptor (GHSR) Genes and Stature Academic Article
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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis Academic Article
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A LINKAGE STUDY USING DNA MARKERS LOCALIZES THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE AT XQ13-XQ22 Conference Paper
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A LOW-COPY, CHROMOSOME-SPECIFIC ALPHA SATELLITE DOMAIN LOCATED IN THE PERICENTROMERIC REGION OF HUMAN CHROMOSOME-14 Conference Paper
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A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility Academic Article
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A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems Academic Article
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A NOVEL PHASE 2A STUDY DESIGN TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE Conference Paper
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A NOVEL-APPROACH TO THE PROVISION OF DIAGNOSIS OF HUNTINGTON DISEASE (HD) THROUGH A PREDICTIVE TESTING PROGRAM Conference Paper
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A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization Academic Article
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism Conference Paper
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A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred Academic Article
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A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease Academic Article
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A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? Academic Article
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A genome-wide scan for common alleles affecting risk for autism Academic Article
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A girl with velocardiofacial phenotype and complex chromosome rearrangements involvinq 8p and 10p Conference Paper
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A huntingtin-mediated fast stress response halting endosomal trafficking is defective in Huntington's disease Academic Article
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A large multiexonic genomic deletion within theALMS1gene causes Alström syndrome in a consanguineous Pakistani family 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 model for the genetic etiology of autism spectrum disorders involving alleles at maternal and fetal susceptibility loci. Conference Paper
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A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations Academic Article
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A mutation of the myosin heavy chain-7 tail domain results in an autosomal dominant hyaline body myopathy. Conference Paper
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A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred Academic Article
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder Academic Article
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A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease Academic Article
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A point mutation in the neu1 promoter recruits an ectopic repressor, Nkx3.2 and results in a mouse model of sialidase deficiency Academic Article
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A principal component regression based genome wide analysis approach reveals the presence of a novel QTL on BTA7 for MAP resistance in holstein cattle Academic Article
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A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia". Academic Article
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A randomized.controlled trial (RCT) to evaluate the use of misoprostol for second trimester pregnancy termination associated with fetal malformation Conference Paper
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A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia Academic Article
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A rare case of mosaic Down syndrome 46,XY/46,XY, -21, +i(21q) Academic Article
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A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer Academic Article
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A streamlined method for analysing genome-wide DNA methylation patterns from low amounts of FFPE DNA Academic Article
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A study to determine the genetic basis of uterine papillary serous adenocarcinoma. Conference Paper
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A target based approach identifies genomic predictors of breast cancer patient response to chemotherapy Academic Article
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ADULT ONSET POLYCYSTIC KIDNEY-DISEASE (APKD) - CLINICAL ONSET, PROGNOSIS AND ULTRASONOGRAPHIC DETECTION Conference Paper
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ALLOGENEIC SOMATIC GENE-THERAPY - CORRECTION OF GROWTH-HORMONE DEFICIENCY IN DWARF MICE WITH MICRO-ENCAPSULATED NON-AUTOLOGOUS MYOBLASTS Conference Paper
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ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION Conference Paper
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AN ONGOING PHASE 2A STUDY TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE: PRELIMINARY RESULTS Conference Paper
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ANTENATAL DIAGNOSIS OF GLUTARIC ACIDEMIA Conference Paper
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ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS Conference Paper
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AP-2α knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis Academic Article
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ARYLSULFATASE-C ISOZYMES IN HUMAN-TISSUES Conference Paper
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ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conference Paper
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ASSIGNMENT AND REGIONAL LOCALIZATION OF A SERIES OF X-CHROMOSOME SPECIFIC DNA PROBES Conference Paper
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Abnormal fatty acid metabolism in childhood spinal muscular atrophy (SMA) may predispose to perioperative risks for mitochondrial decompensation and liver failure Conference Paper
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Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia Academic Article
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Absence of congemla1 myotomc dystrophy (CDM) in a baby wth 1000 DMPK CTG repeats born afler a slblmg with CDM Academic Article
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Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families Academic Article
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Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms Academic Article
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Achondroplasia-Hypochondroplasia Complex in a newborn. Conference Paper
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Additional evidence for fragile X activity in heterozygous carriers Academic Article
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Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease Academic Article
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Agnathia-otocephaly complex in a fetus with maternal use of topical 1% salicylate Academic Article
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Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population Academic Article
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Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/) Academic Article
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American Journal of Human Genetics Journal
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Journal
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An adjacent-2 segregation in a balanced familial t(9;15)(q32;q13) with a large centric segment. Conference Paper
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An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. Academic Article
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An emerging role for Wnt and GSK3 signaling pathways in schizophrenia Academic Article
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An initial genetic linkage map of the rhesus macaque (Macaca mulatta) genome using human microsatellite loci Academic Article
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An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Academic Article
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An uncommon 3.4-Mb interstitial deletion at 3q29 Academic Article
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Analysis of Sus scrofa liver proteome and identification of proteins differentially expressed between genders, and conventional and genetically enhanced lines Academic Article
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Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4Rgenes to obesity in Mexican children Academic Article
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Annales de Genetique Journal
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Annals of Human Genetics Journal
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Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases Academic Article
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Assessing the quality of published genetic association studies in meta-analyses: the quality of genetic studies (Q-Genie) tool Academic Article
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Assigning a probability for paternity in apparent cases of mutation. Academic Article
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Assignment of the bovine attractin (ATRN) gene to chromosome 13q21→q22 by in situ hybridization Academic Article
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Association between the -455T>C promoter polymorphism of the APOC3gene and the metabolic syndrome in a multi-ethnic sample Academic Article
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Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry Academic Article
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Association of autism severity with a monoamine oxidase A functional polymorphism Academic Article
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Association of variants in the Sirtuin 1 (SIRT1) gene with severe obesity Conference Paper
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Attitudes about hereditary breast cancer among diverse breast cancer survivors. Conference Paper
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Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis Academic Article
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Autosomal dominant hyaline body myopathy in a Saudi Arabian family is linked to chromosome 14q Conference Paper
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BMC Genetics Journal
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BMC Medical Genetics Journal
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BMC Medical Genomics Journal
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BRAIN-TARGETED THERAPY FOR MUCOPOLYSACCHARIDOSIS TYPE II DELIVERED BY MICROENCAPSULATED RECOMBINANT CELLS Conference Paper
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BRCA1 germ-line mutation status, distinctive cell cycle proteins expression and outcome after breast cancer. Conference Paper
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BRCA2 Variants and cardiovascular disease in a multi-ethnic study Academic Article
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Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases Academic Article
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Behavior Genetics Journal
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Behavioral characterization and genetic analysis of the Drosophila melanogaster larval response to light as revealed by a novel individual assay. Academic Article
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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling 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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Biochemical and Molecular Medicine Journal
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Biochemical variability of arylsulphatases-A,-B and-C in cultured fibroblasts from patients with multiple sulphatase deficiency Academic Article
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Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines Academic Article
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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014) Academic Article
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Birth Defects Research Part A - Clinical and Molecular Teratology Teratology Journal
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Blepharophimosis-ptosis-epicanthus inversus syndrome plus 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 IFNGR2, IL12RB1, IL12RB2, and IL23R polymorphisms and MAP infection status Academic Article
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Breakpoint localization of the marker chromosome associated with the cat eye syndrome. Academic Article
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Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in theBRCA1orBRCA2gene Academic Article
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CAVEATS TO GENETIC-COUNSELING FOR DISEASES WITH DYNAMIC MUTATIONS - MYOTONIC-DYSTROPHY AT ON EXAMPLE Conference Paper
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CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES Conference Paper
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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Academic Article
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CHROMOSOMAL FRAGILE SITES IN PATIENTS WITH BIPOLAR AFFECTIVE-DISORDER Conference Paper
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CHROMOSOME-ABNORMALITIES IN STILLBIRTHS AND NEONATAL DEATHS Conference Paper
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CHROMOSOME-SPECIFIC HUMAN ALPHA SATELLITE DNA - ISOLATION AND CHARACTERIZATION OF POLYMORPHIC REPEATED DNA FAMILY FROM CHROMOSOME-17 (D17Z1) Conference Paper
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CK syndrome: another glimpse of neurodevelopmental regulation by cholesterol biosynthesis Conference Paper
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CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION Conference Paper
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CNVs in Obesity: Uncovering a New Level of Genomic Variation Conference Paper
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COMPLEMENTATION OF ARYLSULFATASE-A IN SOMATIC-CELL HYBRIDS FORMED BY FUSION BETWEEN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY AND MULTIPLE SULFATASE DEFICIENT DISORDER Conference Paper
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CONGENITAL NEPHROTIC SYNDROME AND BRAIN DYSGENESIS - A NEW SYNDROME Conference Paper
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CONSTRUCTION OF BRAIN-TARGETED MURINE B-GALACTOSIDASE FOR APPLICATION IN THE TREATMENT OF GM1 GANGLIOSIDOSIS: MOUSE ENZYME LESS SUSCEPTIBLE TO PROTEOLYTIC DEGRADATION THAN HUMAN ENZYME Conference Paper
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Cancer and Pregnancy Outcomes: An Overview of Existing Knowledge and Preliminary Results of a Multicenter Study Conference Paper
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Carrier detection of haemophilia A using DNA markers in families with an isolated affected male Academic Article
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Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans. Conference Paper
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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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Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells Academic Article
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Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) Academic Article
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Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies” Academic Article
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Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC). Conference Paper
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Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis Academic Article
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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders Academic Article
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Chromosome studies at the paediatric necropsy Academic Article
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Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA Academic Article
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Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10 Academic Article
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Chronic AMPK activation evokes the slow, oxidative myogenic program and triggers beneficial adaptations in mdx mouse skeletal muscle Academic Article
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Citizens' perspectives on personalized medicine: a qualitative public deliberation study Academic Article
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Clinical Diagnosis and Management of Cerebral Palsy Conference Paper
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Clinical Dysmorphology Journal
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Clinical Genetics Journal
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Clinical and cytogenetic study on 30 meningioma patients referred to Ghaem Hospital, North East of Iran Conference Paper
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome Academic Article
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Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Academic Article
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Clinical genetics provider real-time workflow study Academic Article
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 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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Cloning and characterization of alternatively spliced isoforms of Dp71 Academic Article
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Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity Academic Article
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Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts Academic Article
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Cloning of two genes from the 22q11 deletion syndrome proximal critical region. Conference Paper
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Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles Academic Article
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Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Academic Article
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Common genetic influences identify cognitive and behavioral networks in the Philadelphia Neurodevelopmental Cohort Conference Paper
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Community Genetics Public Health Genomics Journal
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Comparative Biochemistry and Physiology - Part D: Genomics and Proteomics Journal
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Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Academic Article
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Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes Academic Article
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Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency Academic Article
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Complete mitochondrial genome sequence of the heart failure model of cardiomyopathic Syrian hamster (Mesocricetus auratus) 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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Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study Academic Article
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Conserved inserts in the Hsp60 (GroEL) and Hsp70 (DnaK) proteins are essential for cellular growth Academic Article
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Contribution of SHANK3 Mutations to Autism Spectrum Disorder Academic Article
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Contribution of SHANK3 mutations to autism spectrum disorder. Academic Article
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Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals Academic Article
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Control of RpoS in global gene expression of Escherichia coli in minimal media Academic Article
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
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Copy number variation in metabolic phenotypes Academic Article
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Cornelia de Lange syndrome - Prenatal manifestations: Report of four cases. Conference Paper
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Correction Academic Article
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Correspondence Academic Article
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Corrigendum to “Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern” [Mol. Genet. Metab. 104 (2011) 587–591] Academic Article
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Covariance of Isometric and Dynamic Arm Contractions: Multivariate Genetic Analysis Academic Article
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Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation Academic Article
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Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Academic Article
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Cytogenetic and Genome Research Cytogenetics and Cell Genetics Journal
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Cytogenetic comparison of saola (Pseudoryx nghetinhensis) and cattle (Bos taurus) using G- and Q-banding and FISH Academic Article
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Cytogenetic survey of a hospital for the mentally retarded Academic Article
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DAX1/SHP family of the nuclear hormone receptor superfamily appears predisposed to sequence variability. Conference Paper
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DELIVERY OF A NOVEL GENE-PRODUCT THROUGH MICRO-ENCAPSULATED NON-AUTOLOGOUS CELLS Conference Paper
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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 Sequence - Journal of DNA Sequencing and Mapping Mitochondrial DNA Journal
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DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA Conference Paper
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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) Academic Article
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 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 mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Academic Article
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Decreased ventilator use in a 27-year-old man with late-onset Pompe disease within one year of using alglucosidase-alfa Conference Paper
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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 tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice Academic Article
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Deletion ofMAP2K2/MEK2: a novel mechanism for a RASopathy? Academic Article
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Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group. Academic Article
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Detection and interpretation of two different cell lines in triploid abortions Academic Article
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Academic Article
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Detection of Severe Nondeletional α-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay Academic Article
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Detection of a de novo mutation in a family with SMA Type I: The importance of dosage testing Academic Article
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Detection of homogeneous staining region (hsr) in acute lymphoblastic leukemia (ALL). Conference Paper
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Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11 Academic Article
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Development and Pilot Evaluation of Novel Genetic Educational Materials Designed for an Underserved Patient Population Academic Article
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DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. 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 and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
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Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures Academic Article
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Diaspora, migration, and the sciences: a new integrated perspective Academic Article
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Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic Academic Article
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Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis Academic Article
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Dinucleotide repeat polymorphism at the D21S65 locus Academic Article
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Direct duplication of 4p14p15.31. Conference Paper
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Disentangling the autism phenotype; a sib-pair analysis. Conference Paper
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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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Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening Academic Article
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Distribution of CFTR mutations in Saguenay-Lac-Saint-Jean: proposal of a panel of mutations for population screening (vol 10, pg 201, 2008) 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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Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene? Academic Article
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Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families? Academic Article
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Double aneuploidy (47,XX,21+-45,X) arising through simultaneous double non-disjunction. Academic Article
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Double balanced translocations t(5;22) and t(6;8) in a woman with recurrent miscarriages. Conference Paper
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Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation 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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Duplication 1q32-q44 and multiple congenital anomalies. Conference Paper
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Dysmorphic facial features, CNS abnormalities, hand malformations, and myocardial cytomegaly in three female fetuses: A familial fetal neurodegenerative disorder? Conference Paper
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Dysmorphic features, multiple congenital anomalies, and preaxial polydactyly of feet: Diabetic embryopathy or a malformation syndrome? Conference Paper
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EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines Academic Article
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EFFECT OF BONE-MARROW TRANSPLANT OF THE BEHAVIORAL ABNORMALITIES OF A MURINE MODEL OF MUCOPOLYSACCHARIDOSIS TYPE-VII (SLY DISEASE) Conference Paper
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EXPRESSION STUDIES OF 2 MISSENSE MUTATIONS IN BETA-GALACTOSIDASE THAT RESULT IN GM1-GANGLIOSIDOSIS Conference Paper
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Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome Academic Article
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Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests Academic Article
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Economic Evaluations Conducted for Assessment of Genetic Testing Technologies: A Systematic Review Academic Article
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Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype 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 novel beta-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen-deuterium exchange mass spectrometry Conference Paper
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Efficient identification of retinoblastoma gene mutations enhances health care. Conference Paper
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Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant Academic Article
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Endocannabinoid receptor 1 gene variations increase risk for obesity and modulate body mass index in European populations Academic Article
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Epigenetics, heritability and longitudinal analysis Academic Article
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Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project Academic Article
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Erratum: CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
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Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region. Conference Paper
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Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease. Academic Article
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European Journal of Human Genetics Journal
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European Journal of Medical Genetics Journal
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European Reference Networks and Guideline Development and Use: Challenges and Opportunities Academic Article
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Evaluation of ductus venosus blood flow as a screening marker for Down syndrome in the first-trimester Conference Paper
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Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration Academic Article
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Evidence synthesis and guideline development in genomic medicine: current status and future prospects Academic Article
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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency Academic Article
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Examining the shared genetic architecture of risk tolerance and related behaviors Conference Paper
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Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature 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 as a Diagnostic Tool for Pediatric-Onset Ataxia Academic Article
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Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect Academic Article
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Exosome-mRNA (EXERNA) therapy for Pompe disease Conference Paper
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Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C Conference Paper
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Exosome-mRNA therapy for Gaucher disease Conference Paper
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Experimental hyperphenylalaninemia in the pregnant guinea pig: Possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity Academic Article
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Exploring the diploid wheat ancestral A genome through sequence comparison at the high-molecular-weight glutenin locus region Academic Article
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Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures Academic Article
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FISH of kidney touch preparation: a useful approach to chromosome studies of products of conception. Conference Paper
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Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion Academic Article
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Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers Academic Article
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Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study Academic Article
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Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis Academic Article
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Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression Academic Article
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Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. Academic Article
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Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Academic Article
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From big data analysis to personalized medicine for all: challenges and opportunities Academic Article
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Functional rescue of vitamin C synthesis deficiency in human cells using adenoviral-based expression of murine l-gulono-γ-lactone oxidase Academic Article
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Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Academic Article
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GRIN2Bencephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Academic Article
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Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients. Academic Article
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Gene symbol: ARSA. Academic Article
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Gene symbol: ARSA. Academic Article
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Gene therapy for Fabry disease patients: The importance of efficient biomarker monitoring Conference Paper
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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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Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations Academic Article
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Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals Academic Article
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Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol Academic Article
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Genetic Counseling Journal
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Genetic Susceptibility to West Nile Virus and Dengue Academic Article
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Genetic Testing Genetic Testing and Molecular Biomarkers Journal
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Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations Academic Article
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Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses Academic Article
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Genetic and Environmental Influences on the Frequency of Orgasm in Women Academic Article
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Genetic and environmental influences on the frequency of orgasm in women Conference Paper
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Genetic implications and health consequences following the Chernobyl nuclear accident Academic Article
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Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Academic Article
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Genetic redundancy is prevalent within the 6.7 Mb Sinorhizobium meliloti genome Academic Article
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Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes Academic Article
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Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Academic Article
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Genetic variations in the quantitative control of erythrocyte glucose-6-phosphate dehydrogenase activity Academic Article
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Genetical studies on a variant of human lactate dehydrogenase (subunit A) Academic Article
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Genetics and Molecular Biology Revista Brasileira de Genetica Journal
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Genetics in Medicine Journal
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Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations Academic Article
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Genome-wide analysis of disease progression in age-related macular degeneration Academic Article
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Genome-wide association scans identified CTNNBL1 as a novel gene for obesity 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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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Academic Article
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Academic Article
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Genomics Journal
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Genotype and phenotype in 12 additional individuals with SATB2
-associated syndrome Academic Article
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Genotype-phenotype correlations in recessive RYR1-related myopathies Academic Article
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Glucose levels controlled with an insulin pump in a patient with combined glycogen storage disease type 1a and type 1 diabetes mellitus Conference Paper
-
Good response to chemotherapy (CT) and hormonotherapy (HT) in patients with BRCA1-related breast cancer (BRCA1-BC). Conference Paper
-
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Academic Article
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Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing Academic Article
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HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update Academic Article
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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server Academic Article
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Health effects of the CPT1A P479L variant: responsible public health policy Academic Article
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Health-Related Quality-of-Life Assessment of Prenatal Diagnosis: Chorionic Villi Sampling and Amniocentesis Academic Article
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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations Academic Article
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Hereditas Journal
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Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency Academic Article
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Human Biology Journal
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Human Genetics Journal
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Human Genomics Journal
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Human Heredity Journal
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Human Molecular Genetics Journal
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Human Mutation Journal
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Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl Academic Article
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Huntingtin N17 domain is a reactive oxygen species sensor regulating huntingtin phosphorylation and localization Academic Article
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Huntingtin contains a highly conserved nuclear export signal Academic Article
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Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity Academic Article
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Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex Academic Article
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IDENTIFYING NOVEL PHARMACOLOGICAL CHAPERONES FOR LYSOSOMAL DISEASES USING A HIGH THROUGHPUT APPROACH Conference Paper
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IN VITRO EFFECT OF NB-DGJ ON ARYLSULFATASE-A DEFICIENT FIBROBLASTS Conference Paper
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INACTIVATION PROPERTIES AT THE ARYLSULFATASE-C LOCUS Conference Paper
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INBORN ERRORS OF MUSCLE METABOLISM IMPLICATED IN RISK FOR STATIN-INDUCED MYOPATHY Conference Paper
-
INDUCTION OF FRAGILE SITES BY APHIDICOLIN AND METHOTREXATE IN HUMAN EMBRYONIC-CELLS Conference Paper
-
Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Academic Article
-
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis Academic Article
-
Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism Academic Article
-
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients Academic Article
-
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) Academic Article
-
Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) Academic Article
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Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients. Conference Paper
-
Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion Academic Article
-
Identifying genetically informative phenotypes in autism spectrum disorders (ASD). Conference Paper
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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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Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis Academic Article
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Impact of HIPAA’s minimum necessary standard on genomic data sharing Academic Article
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Impact of Maternal Overweight during Pregnancy on the Newborn Gut Microbiome Conference Paper
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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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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes Academic Article
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Imputation of missing genotypes: an empirical evaluation of IMPUTE Academic Article
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Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program. Conference Paper
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Incorporation of 7-deaza dGTP during the amplification step in the polymerase chain reaction procedure improves subsequent DNA sequencing Academic Article
-
Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies Academic Article
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Individual common variants exert weak effects on the risk for autism spectrum disorders Academic Article
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Induction of the interleukin 6/ signal transducer and activator of transcription pathway in the lungs of mice sub-chronically exposed to mainstream tobacco smoke Academic Article
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Information needs of women at risk for hereditary breast cancer. Conference Paper
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Integrating GWAS of ADHD and continuous ADHD-related traits Conference Paper
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Interspecific comparisons of 35 nuclear receptor superfamily members show the NROB subfamily to be permissive for sequence variability. Conference Paper
-
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome Academic Article
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Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial Academic Article
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Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22 Academic Article
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Isolation and characterization of polymorphic microsatellite loci in plainfin midshipman fish Academic Article
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Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes Academic Article
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Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome Academic Article
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Journal of Genetic Counseling Journal
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Journal of Human Genetics Journal
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Journal of Inherited Metabolic Disease Journal
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Journal of Medical Genetics Journal
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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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Kinematic Analysis of Drosophila Larval Locomotion in Response to Intermittent Light Pulses Academic Article
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LACK OF EXPANSION OF TRIPLET REPEATS IN THE FMR1, FRAXE, AND FRAXF GENES IN MULTIPLEX MALE FAMILIES WITH AUTISM AND PERVASIVE DEVELOPMENTAL DISORDERS Conference Paper
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LINKAGE OF MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A (MEN2A) AND A NEW DNA MARKER (D10S5) AT 10Q21.1 Conference Paper
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LIVER DYSFUNCTION IMPROVING WITH FRUCTOSE RESTRICTION IN A PATIENT WITH ABNORMAL ISOELECTRIC FOCUSING OF SERUM GLYCOPROTEINS: A CASE REPORT Conference Paper
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Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci Academic Article
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Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci 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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Large-scale genetic study of risk tolerance and risky behaviors identifies new loci and reveals shared genetic influences Conference Paper
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Late diagnosis of maternal glutaric acidemia type 1 through expanded newborn screening Conference Paper
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Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A. Academic Article
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Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 Academic Article
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Linkage and association analysis in pedigrees from different populations Academic Article
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Linkage disequilibrium and modification of risk for Huntington disease. Academic Article
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Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions Academic Article
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Localization and linkage of three polymorphic DNA sequences on human chromosome 20 Academic Article
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Localization by FISH of the 31 Texas nomenclature type I markers to both Q- and R-banded bovine chromosomes Academic Article
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Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina Academic Article
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Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study Academic Article
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Loci influencing blood pressure identified using a cardiovascular gene-centric array Academic Article
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Loci influencing blood pressure identified using a cardiovascular gene-centric array Academic Article
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Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure Academic Article
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Long-term correction of sialidase deficiency in cells and mice by recombinant helper-dependent adenovirus-mediated gene transfer. Conference Paper
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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations Academic Article
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Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle Academic Article
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Low‐depth sequencing for copy number abnormalities in multiple myeloma supersedes fluorescent in situ hybridization in scope and resolution Academic Article
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MAPPING OF A REPETITIVE 1.8 KB KPNL SEQUENCE TO THE SHORT ARM OF CHROMOSOME-15 Conference Paper
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MICROENCAPSULATED BRAIN-TARGETED THERAPY FOR METACHROMATIC LEUKODYSTROPHY Conference Paper
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MOLECULAR ANALYSIS OF THE SUPERNUMERARY CHROMOSOME IN CAT EYE SYNDROME Conference Paper
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MOLECULAR AND GENETIC-CHARACTERIZATION OF CHROMOSOME-SPECIFIC SUBSETS OF HUMAN ALPHA-SATELLITE DNA Conference Paper
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MORBIDITY RISKS IN MOOD DISORDERS Conference Paper
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Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome – the del17q12 syndrome Academic Article
-
Mammalian Genome Mouse Genome Journal
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Academic Article
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Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2 Academic Article
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Mapping of the metalloproteinase gene matrilysin (MMP7) to human chromosome 11q21→q22 Academic Article
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Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty Academic Article
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Maximum Likelihood Estimation of Genetic, Environmental and Phenotypic Factor Scores Conference Paper
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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect. Academic Article
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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Academic Article
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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Academic Article
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Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics Academic Article
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Meta-analysis of SNPs involved in variance heterogeneity using Levene’s test for equal variances Academic Article
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Meta-analysis of genetic association studies under heterogeneity Academic Article
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Microarray analysis of RpoS-mediated gene expression in Escherichia coli K-12 Academic Article
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Miglustat as a therapeutic agent: prospects and caveats 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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Modifier effects in autism at the DHB and MAO-A loci. Conference Paper
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Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results Academic Article
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Modulation of 5-hydroxytryptamine 4 (5HT4) receptor isoform expression predisposes to atrial fibrillation after coronary artery bypass surgery. Conference Paper
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Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency Academic Article
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Molecular Genetics and Genomics Molecular and General Genetics Journal
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Molecular Genetics and Metabolism Journal
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Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs (Xenopus) Academic Article
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Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia 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 characterization of chromosome 4p inversion breakpoints in two autistic siblings. Conference Paper
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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 diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis. Conference Paper
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Molecular genetic analysis of severe protein C deficiency. Academic Article
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Molecular genetic study of three patients with the 22q11 deletion syndrome. Conference Paper
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Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: Implications for linkage in neurofibromatosis Academic Article
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Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients. Conference Paper
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Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease Academic Article
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Monosomy 1p36: deletions and rearrangements. Conference Paper
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Monosomy 1pter syndrome: A case report. Conference Paper
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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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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Academic Article
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Mosaic sex chromosome anomalies in a normal appearing male newborn: prenatal and postnatal molecular cytogenetics studies. Conference Paper
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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation Academic Article
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Mucolipidosis II. The clinical, radiological and biochemical features in three cases Academic Article
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Multidisciplinary study of in utero presentation of fetal GM1 gangliosidosis at 17 weeks gestation. Conference Paper
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Multigene panels in prostate cancer risk assessment: a systematic review Academic Article
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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Academic Article
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Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome. Conference Paper
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Murine Hn1 on Chromosome 11 is expressed in hemopoietic and brain tissues Academic Article
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Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A Academic Article
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Mutant huntingtin causes defective actin remodeling during stress: defining a new role for transglutaminase 2 in neurodegenerative disease Academic Article
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Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism 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 TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia Academic Article
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation 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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NATURAL-HISTORY OF THE ORGANIC ACIDURIAS - A CALL FOR INFORMATION Academic Article
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NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as novel intermediate phenotypes for nicotine dependence Conference Paper
-
NEW INVITRO VARIANT OF METHYLMALONIC ACIDEMIA (MM-EMIA) Conference Paper
-
NEW METHOD FOR NON-SELECTIVE ISOLATION OF HYBRIDS BETWEEN HUMAN DIPLOID FIBROBLASTS Conference Paper
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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases Academic Article
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Neurodevelopment of Children Exposed In Utero to Venlafaxine: Preliminary Results Conference Paper
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Neurodevelopment of Children Exposed In Utero to Venlafaxine; Children Exposed to SSRIs and Non-teratogens as Comparison Groups Conference Paper
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Neurodevelopment of children exposed to antidepressant medications during gestation: A critical overview and meta-analysis. Conference Paper
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Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice Academic Article
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No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases Academic Article
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No longer just an intermediate: Cystathionine protects against endoplasmic reticulum stress induced lipid accumulation and apoptotic cell death Conference Paper
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Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma. Conference Paper
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Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. 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 (cys152>arg) missense mutation in an Arab patient with Canavan disease Academic Article
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Novel GNE Mutations in Autosomal Recessive Hereditary Inclusion Body Myopathy Patients Academic Article
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Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) Academic Article
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Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot Academic Article
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Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity Academic Article
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Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene Academic Article
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Novel seventeen basepair deletion in exon 3 of the β-globin gene Academic Article
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OCULAR MANIFESTATIONS OF JACOBSEN SYNDROME (11Q-) Conference Paper
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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Academic Article
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Odds-ratio regression models for testing joint transmission of candidate genes for tuberculosis. Conference Paper
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Organization and genomic distribution of ?82H? alpha satellite DNA Academic Article
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Orphanet Journal of Rare Diseases Journal
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Oxidative stress and Nrf2 signaling in McArdle disease Academic Article
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PATHOLOGICAL EXAMINATION OF THE LUNG IN A FABRY PATIENT ON ENZYME REPLACEMENT THERAPY Conference Paper
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PROGRAM DESCRIPTION Academic Article
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PSEUDO ARYLSULFATASE-A DEFICIENCY DISORDER - A GENETIC AND BIOCHEMICAL EXPLANATION Conference Paper
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Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication. Conference Paper
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Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deepNF1intronic mutation Academic Article
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Parental origin of triploidy and D and G trisomy in spontaneous abortions. Academic Article
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Parents’ Understanding of Genetics and Heritability Academic Article
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Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome Academic Article
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Partial monosomy 1q43 and partial trisomy 20q13.2 Academic Article
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Academic Article
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Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Academic Article
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Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Academic Article
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Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases Academic Article
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease Academic Article
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Personalized medicine - the promised land: are we there yet? Academic Article
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Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome? Academic Article
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PhenCode: connecting ENCODE data with mutations and phenotype Academic Article
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Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Academic Article
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Physical Mapping of 30 CA Repeats on Human Chromosome 22 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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PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure Academic Article
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Polyendocrinopathy, skeletal dysplasia, organomegaly, and distinctive facies associated with a novel, widely-expressed Gs alpha mutation. Conference Paper
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Polygenic determinants of severe hypertriglyceridemia Academic Article
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Polymorphisms in the gene encoding bovine interleukin-10 receptor alpha are associated with Mycobacterium avium ssp. paratuberculosis infection status Academic Article
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Polyploidy in Amphibia Academic Article
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Predictive power of individual genetic and environmental factor scores Academic Article
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Preface Academic Article
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Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals Academic Article
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Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans Academic Article
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Pregnancy outcome and cognitive development of children exposed in utero to cyclosporine following maternal renal transplant Conference Paper
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Prenatal detection and perinatal management of a giant cervical teratoma. Conference Paper
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Prenatal diagnosis by FISH of a 22q11 deletion in two families. Academic Article
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Prenatal level II mosaic marker representing true fetal mosaicism: What is the lesson? Conference Paper
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Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester. Conference Paper
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Prenatally detected triploidy/trisomy 7 mosaic. Conference Paper
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Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Academic Article
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Probability genotype imputation method and integrated weighted lasso for QTL identification Academic Article
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Proceed with care: direct predictive testing for Huntington disease. Academic Article
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Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene Academic Article
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Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease Academic Article
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Psychosocial issues of burden for genetic conditions in the Chinese population. Conference Paper
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Quality and content of abstracts in papers reporting about drug exposures during pregnancy Academic Article
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R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population Academic Article
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RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA) Conference Paper
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RESIDUAL ARYLSULFATASE-A ACTIVITY IN FIBROBLASTS FROM PATIENTS WITH METACHROMATIC LEUKODYSTROPHY Conference Paper
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RESVERATROL FOR THE CORRECTION OF MITOCHONDRIAL DISORDERS Conference Paper
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Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations Academic Article
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Academic Article
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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures Academic Article
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Rates of risk-reducing surgery in IsraeliBRCA1andBRCA2mutation carriers Academic Article
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Academic Article
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Recombinant hepatitis B surface antigen particles and anionic phospholipid bind to identical sites on apolipoprotein H (beta 2-glycoprotein I) as revealed by site-directed mutagenesis. Conference Paper
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Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia. Academic Article
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Reconstitution of Wild-Type or Mutant Telomerase Activity in Telomerase-Negative Immortal Human Cells Academic Article
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Academic Article
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Regional localization of 18 human X-linked DNA sequences Academic Article
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Reply to Sharpe 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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Response to Newman et al. Academic Article
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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Academic Article
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Risk Reversals in Predictive Testing for Huntington Disease Academic Article
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RpoS regulation of gene expression during exponential growth of Escherichia coli K12 Academic Article
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SECRETION OF HUMAN FACTOR-IX THROUGH MICRO-ENCAPSULATED RECOMBINANT FIBROBLASTS Conference Paper
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SHANK1 Deletions in Males with Autism Spectrum Disorder Academic Article
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SHORT-TERM BIOLOGICAL VARIANCE OF PHE IN PATIENTS WITH PHENYLKETONURIA Conference Paper
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Academic Article
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SNPs in the bovine IL-10 receptor are associated with somatic cell score in Canadian dairy bulls Academic Article
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SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects Academic Article
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SOLID ORGAN 'TRANSPLANTATION IN MITOCHONDRIAL DISEASE: PROCEED WITH CAUTION Conference Paper
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SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS Conference Paper
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SPECTRUM OF ANOMALIES IN THE MECKEL SYNDROME Conference Paper
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SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T) Conference Paper
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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions Academic Article
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Screening for HHH syndrome in northern Saskatchewan Conference Paper
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Screening of aneuploldy using maternal blood spots in the first and second trimester Conference Paper
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Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity Academic Article
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Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma Academic Article
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Serum cholesterol and suicidality in Smith-Lemli-Opitz syndrome heterozygotes Conference Paper
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Severe intellectual disability and autistic features associated with microduplication 2q23.1 Academic Article
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Severe knee hyperextension in a fetus with trisomy 21: Association or coincidence? Conference Paper
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Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Academic Article
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Sex- and age-interacting eQTLs in human complex diseases Academic Article
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Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells Academic Article
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Site-directed mutagenesis and DNA sequence of pckA of Rhizobium NGR234, encoding phosphoenolpyruvate carboxykinase: gluconeogenesis and host-dependent symbiotic phenotype Academic Article
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Six new patients with malonyl-CoA decarboxylase (MCD) deficiency: expanding the phenotypic heterogeneity. Conference Paper
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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern Academic Article
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Sjogren-Larsson syndrome: Motor performance and everyday functioning Conference Paper
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Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction Academic Article
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Smith-Lemli-Opitz syndrome: Phenotype, natural history, and epidemiology Academic Article
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Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Academic Article
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Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations Academic Article
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Sociability in Fruit Flies: Genetic Variation, Heritability and Plasticity Academic Article
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Solid organ transplantation in primary mitochondrial disease: Proceed with caution Academic Article
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Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy Academic Article
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Academic Article
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Staying informed and recontacting patients about research advances: a study of patient attitudes. Academic Article
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Strong mutagenic activity of streptozotocin —an antibiotic with an alkylnitroso group Academic Article
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Structural Variation of Chromosomes in Autism Spectrum Disorder Academic Article
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Structure and regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in killifish: A comparative genomics approach Academic Article
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TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population Academic Article
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THE EXTRA CHROMOSOME IN CAT EYE SYNDROME (CES) IS DERIVED FROM CHROMOSOME-22 - EVIDENCE FROM INSITU HYBRIDIZATION OF A CHROMOSOME-22 SPECIFIC DNA PROBE Conference Paper
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THE GENE FOR NF1 (VON RECKLINGHAUSEN NEUROFIBROMATOSIS) IS ON CHROMOSOME-17 NEAR THE CENTROMERE Conference Paper
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TOWARDS A LINKAGE MAP OF CHROMOSOME-20 Conference Paper
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TRANSIENT NEONATAL HYPERPARATHYROIDISM: A PRESENTING FEATURE OF SIALIDOSIS TYPE II Conference Paper
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TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS Conference Paper
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Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington’s disease pathology Academic Article
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Telomere maintenance by telomerase and by recombination can coexist in human cells Academic Article
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Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization. Conference Paper
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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Academic Article
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Ten new patients with malonyl-coenzyme a decarboxylase (MCD) deficiency Conference Paper
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Testing for maternal and fetal effects in autism. Conference Paper
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Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Academic Article
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Tests for the replication of an association between Egfr and natural variation in Drosophila melanogaster wing morphology. Academic Article
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The Association Between Early Membrane Rupture, Latency, Clinical Chorioamnionitis, Neonatal Infection, and Adverse Perinatal Outcomes in Twin Pregnancies Complicated by Preterm Prelabour Rupture of Membranes Academic Article
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The Duty to Recontact: Attitudes of Genetics Service Providers Academic Article
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The Gene Encoding p120cas, a Novel Catenin, Localizes on Human Chromosome 11q11 (CTNND) and Mouse Chromosome 2 (Catns) Academic Article
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The Sensitivity of Variance Component Estimates to Underreporting: Method and Application to Substance Abuse Data Academic Article
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The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology Academic Article
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The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects Academic Article
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The Telomere Lengthening Mechanism in Telomerase-Negative Immortal Human Cells Does Not Involve the Telomerase RNA Subunit Academic Article
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The association of polythelia with segmentation defects of the vertebrae Academic Article
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The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy Academic Article
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The broader autism phenotype: Defining genetically informative dimensions. Conference Paper
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The current state of cancer family history collection tools in primary care: a systematic review Academic Article
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The duty to recontact: attitudes of genetics service providers. Conference Paper
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
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The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies Academic Article
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The genotypic and phenotypic spectrum of MTO1 deficiency Academic Article
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The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. Academic Article
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The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter Academic Article
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The huntingtin N17 domain is a multifunctional CRM1 and Ran-dependent nuclear and cilial export signal Academic Article
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The impact of inaccurate ages on a potential association between tuberculosis and NRAMP1. Conference Paper
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The incidence of Smith-Lemli-Opitz Syndrome (SLOS) in Ontario, Canada. Conference Paper
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Academic Article
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The relation between DNA methylation patterns and serum cytokine levels in community-dwelling adults: a preliminary study Academic Article
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The role of microsatellite instability in patients with gastric cancer: A case-control study in high-frequent area. Conference Paper
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The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis Academic Article
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The use of objective structured clinical exams (OSCES) assess genetic counseling and communication skills of pediatric residents. Conference Paper
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Therapeutic potential of exosomes in Pompe disease: Treatment of tomorrow, today for lysosomal diseases Conference Paper
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Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations. Conference Paper
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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome Academic Article
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Thrice better than once: quality control guidelines to validate new mitogenomes Academic Article
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Tissue-specific expression of human arylsulfatase-C isozymes and steroid sulfatase. Academic Article
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Transcriptional induction of human lysosomal sialidase promoter as a potential strategy for the treatment of Tay Sachs disease Conference Paper
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Trisomy 21 Down syndrome Academic Article
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Trisomy 21 Down syndrome Academic Article
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Trisomy 21 and Ebstein Anomaly. Conference Paper
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Trisomy 21: association between reduced recombination and nondisjunction. Academic Article
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Twin Research Twin Research and Human Genetics Journal
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Twinning rate in spontaneous abortions Academic Article
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Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis Academic Article
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Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium Academic Article
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Understanding the population structure of North American patients with cystic fibrosis Academic Article
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Universal Newborn Screening for Hb H Disease in California Academic Article
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Use of immunosuppressive agents in gene therapy for prolonged delivery of recombinant products. Conference Paper
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Use of latent class models to accommodate inter-laboratory variation in assessing genetic polymorphisms associated with disease risk Academic Article
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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Academic Article
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Academic Article
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Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation Academic Article
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VISUALIZATION OF NUCLEOLAR ORGANIZER REGIONS IN SLOTHS (BRADYPUS-VARIEGATUS AND SCAEOPUS-TORQUATUS) Academic Article
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Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians Academic Article
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Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia Academic Article
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Voluntary and electrically evoked strength characteristics of obese and nonobese preadolescent boys. Academic Article
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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations Academic Article
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Weight correction and ethnic differences for first trimester Down syndrome biochemical markers. Conference Paper
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Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients Academic Article
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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study Academic Article
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Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum Academic Article
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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families Academic Article