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CDKN2AMutations in Multiple Primary Melanomas Academic Article
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De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander Academic Article
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IRAK-4Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells Academic Article
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TSPEAR
variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Academic Article
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l-Glutaric Acidemia: Investigation of a Patient and His Family Academic Article
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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 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 New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH) Academic Article
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A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog Academic Article
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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 fertile man with tdic(Y;22): How a stable neo-X1X2Y sex-determining mechanism could evolve in man Academic Article
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A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? Academic Article
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A full genome search in multiple sclerosis Academic Article
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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees Academic Article
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A molecular genetic study of factor XI deficiency Academic Article
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A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family Academic Article
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A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred Academic Article
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A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity Academic Article
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A novel congenital haemostatic defect Academic Article
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A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene Academic Article
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A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome 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 novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family Academic Article
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A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. Academic Article
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A unique BRCA1 mutation identified in Mongolia Academic Article
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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies Academic Article
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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis Academic Article
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ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion Academic Article
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Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis Academic Article
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An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13 Academic Article
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An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect 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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Analysis of Environmental Factors in Familial Versus Sporadic Paget's Disease of Bone-The New England Registry for Paget's Disease of Bone Academic Article
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Analysis of the SIM1 Contribution to Polygenic Obesity in the French Population Academic Article
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Antithrombin III Sudbury: An Ala384 → pro mutation with abnormal thrombin-binding activity and thrombotic diathesis Academic Article
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Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity Academic Article
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Asia–Pacific consensus guidelines on gastric cancer prevention Academic Article
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Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage 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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Autosomal dominant hyaline body myopathy: Clinical variability and pathologic findings 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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Bleeding risks associated with inheritance of the Quebec platelet disorder Academic Article
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Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer Academic Article
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Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario. Academic Article
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Carrier detection in the hemophilias Academic Article
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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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Characterization of Class I– and Class II–Like Major Histocompatibility Complex Loci in Pedigrees of North Atlantic Right Whales Academic Article
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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders Academic Article
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Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers Academic Article
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Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration Academic Article
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Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys Academic Article
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Clinical and Methodological Factors Related to Reliability of the Best-Estimate Diagnostic Procedure Academic Article
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Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study Academic Article
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Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation Academic Article
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Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation Academic Article
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Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening Academic Article
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Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency Academic Article
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Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies Academic Article
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Computerized videokeratography of keratoconus kindreds. Academic Article
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Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the -subunit of cone specific transducin (GNAT2) Academic Article
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Contribution of SHANK3 mutations to autism spectrum disorder. Academic Article
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders Academic Article
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Cystathioninuria and Renal Iminoglycinuria in a Pedigree Academic Article
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DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome Academic Article
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DNA Marker Studies Show That Machado Joseph Disease is Not an Allele of The Huntingdon Disease Locus 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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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing Academic Article
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Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11 Academic Article
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Diagnosis of arylsulfatase A deficiency Academic Article
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Diagnostic Pitfall in PCR-Based α-Thalassemia Genotyping Resulting from a (G→C) Polymorphism at Nucleotide 71 3′ to the α2-Globin Gene Termination Codon 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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Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation Academic Article
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Early and lethal neurodegeneration with myasthenic and myopathic features Academic Article
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Effects of TCF7L2
Polymorphisms on Obesity in European Populations Academic Article
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Effects of misclassification on estimates of relative risk in family history studies Academic Article
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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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Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemiaa Academic Article
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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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Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration Academic Article
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Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin 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 complex I NDUFV2 mutations as a novel cause of Leigh syndrome Academic Article
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Familial Aggregation of Psychiatric Disorders in a Community Sample of Adolescents Academic Article
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Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations Academic Article
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Familial Diffuse Cystic Angiomatosis of Bone Academic Article
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Familial Evans Syndrome Academic Article
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Familial dysmyelination in a Long Evans rat mutant. Academic Article
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Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion Academic Article
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Familial thrombophilia and the prothrombin 20210A mutation Academic Article
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Familial variant of dermatofibroma with malignancy in the proband Academic Article
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Family Practice Grand Rounds. Care of a troubled family and their child with sickle cell anemia. Academic Article
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Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy Academic Article
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Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk Academic Article
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Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Academic Article
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Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Academic Article
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GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B6DEPENDENCY WITH SEIZURES Academic Article
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Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice Academic Article
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Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation Academic Article
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Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family Academic Article
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Genetic Polymorphisms of Human Mitochondrial Glutamic Oxaloacetic Transaminase Academic Article
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Genetic linkage studies in antithrombin-deficient kindreds using a highly polymorphic trinucleotide short tandem repeat (str) within the human antithrombin gene 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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Germline mosaicism in Cornelia de Lange syndrome Academic Article
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Gova/b alloantigen system on human platelets Academic Article
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Haemoglobin D Los Angeles, D-β<sup>+</sup>-Thalassaemia, and D-β°- Thalassaemia Academic Article
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Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family Academic Article
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Hb E/Hb LeporeHollandia in a family from Bangladesh 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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Hb H hydrops foetalis syndrome: a case report and review of literature Academic Article
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Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α-thalassemia Academic Article
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Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background Academic Article
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Hemoglobinopathies: three illustrative case studies Academic Article
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HemoglobiriBethesda, β145 (HC2) Tyr→His, in a Canadian Family Academic Article
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Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes. Academic Article
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Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations Academic Article
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Hereditary site-specific colon cancer in a Canadian kindred. Academic Article
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Hereditary site-specific colon cancer in a Canadian kindred. Academic Article
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Heterozygous
NOTCH1
deletion associated with variable congenital heart defects Academic Article
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High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC] Academic Article
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High functioning autism and Childhood Disintegrative Disorder in half brothers. Academic Article
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Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report Academic Article
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Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA. Academic Article
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Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies Academic Article
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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy Academic Article
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Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome Academic Article
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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Academic Article
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Is There a Gradient in Life Span by Position in the Social Hierarchy? Academic Article
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Is Uterine Papillary Serous Adenocarcinoma a Manifestation of the Hereditary Breast–Ovarian Cancer Syndrome? Academic Article
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Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders Academic Article
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Large Electroencephalographic Responses and Their Relationship to Cleido-Cranial Dysplasia Academic Article
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Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family Academic Article
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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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Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13 Academic Article
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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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Loss-of-Function Mutations in MC4R Are Very Rare in the Greek Severely Obese Adult Population Academic Article
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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation Academic Article
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Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers Academic Article
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Management of anti-thrombin III deficiency during pregnancy without administration of anti-thrombin III Academic Article
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Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Academic Article
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1 Academic Article
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Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy Academic Article
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Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling Academic Article
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Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients Academic Article
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Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1
frameshift mutation Academic Article
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Mood disorder service genetic database: Morbidity risks for mood disorders in 3,942 first-degree relatives of 671 index cases with single depression, recurrent depression, bipolar I, or bipolar II Academic Article
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Multimerin: a bench-to-bedside chronology of a unique platelet and endothelial cell protein--from discovery to function to abnormalities in disease. Academic Article
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Multiple Tumors in a Child with Germ-Line Mutations inTP53andPTEN Academic Article
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Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy Academic Article
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy Academic Article
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Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly Academic Article
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Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome Academic Article
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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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Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease Academic Article
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Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification Academic Article
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POLRMT mutations impair mitochondrial transcription causing neurological disease Academic Article
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Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene Academic Article
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Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making Academic Article
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Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature Academic Article
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PedSplit: pedigree management for stratified analysis 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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Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg) Academic Article
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Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation 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 by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases. Academic Article
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders Academic Article
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Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders Academic Article
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Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia Academic Article
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Pretibial epidermolysis bullosa: Report of a case Academic Article
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Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees Academic Article
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Proceed with care: direct predictive testing for Huntington disease. Academic Article
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Prolongation of Brainstem Auditory-Evoked Responses in Autistic Probands and Their Unaffected Relatives Academic Article
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Prospective study of high-risk, BRCA1/2-mutation negative women: the ‘negative study’ 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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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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RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY Academic Article
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Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD Academic Article
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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
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Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States Academic Article
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Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia. Academic Article
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Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38) Academic Article
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Relationship between socioeconomic status and asthma: a longitudinal cohort study Academic Article
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Reliability of race assessment based on the race of the ascendants: a cross-sectional study Academic Article
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Risk Reversals in Predictive Testing for Huntington Disease Academic Article
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SHANK1 Deletions in Males with Autism Spectrum Disorder 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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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions Academic Article
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Schimke immunoosseous dysplasia complicated by moyamoya phenomenon Academic Article
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Segregating patterns of copy number variations in extended autism spectrum disorder (
ASD
) pedigrees 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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Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER) Academic Article
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Simplified Canadian Definition for Familial Hypercholesterolemia Academic Article
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Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects Academic Article
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Studies of a Second Family With the Quebec Platelet Disorder: Evidence That the Degradation of the α-Granule Membrane and Its Soluble Contents Are Not Secondary to a Defect in Targeting Proteins to α-Granules Academic Article
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Study of alleles of the second complement component (C2) on Canadian HLA haplotypes Academic Article
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Succinylcholine sensitivity in a nova scotia family Academic Article
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Suicidal Behavior Runs in Families Academic Article
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis Academic Article
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THE EFFECT OF TEMPERATURE ON FLUORIDE-RESISTANT SERUM CHOLINESTERASE Academic Article
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The Melanocortin 4 Receptor p.Ile269Asn Mutation Is Associated with Childhood and Adult Obesity in Mexicans Academic Article
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The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome Academic Article
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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families 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 expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations Academic Article
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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome Academic Article
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Thrombosis in Antithrombin-III-deficient Persons Academic Article
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Tissue specificity of oncogene action: endothelial cell tumours in polyoma middle T transgenic mice. Academic Article
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Tracking mtDNA Heteroplasmy through Multiple Generations in the North Atlantic Right Whale (Eubalaena glacialis) Academic Article
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia 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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Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments] Academic Article
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Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A Academic Article
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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Academic Article
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VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM Academic Article
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Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation Academic Article
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Variation of Phenotype in Charcot-Marie-Tooth Disease Academic Article
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Vialetto-Van Laere syndrome in two sisters born to consanguineous parents 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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X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY Academic Article
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[Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects]. Academic Article
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p53 compound heterozygosity in a severely affected child with Li-Fraumeni Syndrome Academic Article