Pedigree Concept

subject area of

• 2 DIFFERENT MISSENSE MUTATIONS AT ARG 178 OF THE PROTEIN-C (PROC) GENE CAUSING RECURRENT VENOUS THROMBOSIS  Journal Articles
• CDKN2AMutations in Multiple Primary Melanomas  Journal Articles
• CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency  Journal Articles
• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Journal Articles
• IRAK-4 Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells  Journal Articles
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Journal Articles
• l-Glutaric Acidemia: Investigation of a Patient and His Family  Journal Articles
• A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families  Journal Articles
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Journal Articles
• A New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH)  Journal Articles
• A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog  Journal Articles
• A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred  Journal Articles
• A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?  Journal Articles
• A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees  Journal Articles
• A molecular genetic study of factor XI deficiency  Journal Articles
• A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family  Journal Articles
• A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred  Journal Articles
• A novel congenital haemostatic defect  Journal Articles
• A novel multisystem disease associated with recessive mutations in the tyrosyl‐tRNA synthetase (YARS) gene  Journal Articles
• A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome  Journal Articles
• A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease  Journal Articles
• A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.  Journal Articles
• A unique BRCA1 mutation identified in Mongolia  Journal Articles
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Journal Articles
• ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis  Journal Articles
• ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion  Journal Articles
• An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis  Journal Articles
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Journal Articles
• 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  Journal Articles
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Journal Articles
• Analysis of Environmental Factors in Familial Versus Sporadic Paget's Disease of Bone—The New England Registry for Paget's Disease of Bone  Journal Articles
• Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity  Journal Articles
• Asia–Pacific consensus guidelines on gastric cancer prevention  Journal Articles
• Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.  Journal Articles
• Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage  Journal Articles
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Journal Articles
• Autosomal dominant hyaline body myopathy  Journal Articles
• Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay  Journal Articles
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Journal Articles
• Bleeding risks associated with inheritance of the Quebec platelet disorder  Journal Articles
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Journal Articles
• CARE OF A TROUBLED FAMILY AND THEIR CHILD WITH SICKLE-CELL-ANEMIA  Journal Articles
• Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario.  Journal Articles
• Carrier detection in the hemophilias  Journal Articles
• Carrier detection of haemophilia A using DNA markers in families with an isolated affected male  Journal Articles
• Characterization of Class I– and Class II–Like Major Histocompatibility Complex Loci in Pedigrees of North Atlantic Right Whales  Journal Articles
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Journal Articles
• Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers  Journal Articles
• Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration  Journal Articles
• Clinical and Methodological Factors Related to Reliability of the Best-Estimate Diagnostic Procedure  Journal Articles
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Journal Articles
• Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation  Journal Articles
• Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation  Journal Articles
• 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  Journal Articles
• Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency  Journal Articles
• Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies  Journal Articles
• Computerized videokeratography of keratoconus kindreds.  Journal Articles
• Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the  -subunit of cone specific transducin (GNAT2)  Journal Articles
• Contribution of SHANK3 Mutations to Autism Spectrum Disorder  Journal Articles
• Contribution of SHANK3 mutations to autism spectrum disorder.  Journal Articles
• Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders  Journal Articles
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Journal Articles
• DNA Marker Studies Show That Machado Joseph Disease is Not an Allele of The Huntingdon Disease Locus  Journal Articles
• DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration  Journal Articles
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Journal Articles
• Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa  Journal Articles
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Journal Articles
• Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11  Journal Articles
• Diagnosis of arylsulfatase A deficiency  Journal Articles
• 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  Journal Articles
• Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation‐positive families?  Journal Articles
• Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation  Journal Articles
• Early and lethal neurodegeneration with myasthenic and myopathic features  Journal Articles
• Effects of misclassification on estimates of relative risk in family history studies  Journal Articles
• Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant  Journal Articles
• Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemia^a  Journal Articles
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Journal Articles
• Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin  Journal Articles
• Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia  Journal Articles
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Journal Articles
• Familial Aggregation of Psychiatric Disorders in a Community Sample of Adolescents  Journal Articles
• Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations  Journal Articles
• Familial Evans Syndrome  Journal Articles
• Familial dysmyelination in a Long Evans rat mutant.  Journal Articles
• Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion  Journal Articles
• Familial thrombophilia and the prothrombin 20210A mutation  Journal Articles
• Familial variant of dermatofibroma with malignancy in the proband  Journal Articles
• Family Practice Grand Rounds. Care of a troubled family and their child with sickle cell anemia.  Journal Articles
• Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy  Journal Articles
• Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk  Journal Articles
• Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer  Journal Articles
• Further localization of X-linked hydrocephalus in the chromosomal region Xq28.  Journal Articles
• Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice  Journal Articles
• Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation  Journal Articles
• Generalized epilepsy with febrile seizures plus  Journal Articles
• Genetic Polymorphisms of Human Mitochondrial Glutamic Oxaloacetic Transaminase  Journal Articles
• Genetic linkage studies in antithrombin‐deficient kindreds using a highly polymorphic trinucleotide short tandem repeat (str) within the human antithrombin gene  Journal Articles
• Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.  Journal Articles
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.  Journal Articles
• Germline mosaicism in Cornelia de Lange syndrome  Journal Articles
• Gova/b alloantigen system on human platelets  Journal Articles
• Haemoglobin D Los Angeles, D-β⁺-Thalassaemia, and D-β°- Thalassaemia  Journal Articles
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Journal Articles
• Hb E/Hb Lepore_Hollandia in a family from Bangladesh  Journal Articles
• Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing  Journal Articles
• Hb H hydrops foetalis syndrome: a case report and review of literature  Journal Articles
• Healthy First-Degree Relatives From Multiplex Families vs Simplex Families Have Higher Subclinical Intestinal Inflammation, a Distinct Fecal Microbial Signature, and Harbor a Higher Risk of Developing Crohn's Disease.  Journal Articles
• Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α‐thalassemia  Journal Articles
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Journal Articles
• Hemoglobinopathies: three illustrative case studies  Journal Articles
• Hemoglobiri_Bethesda, β145 (HC2) Tyr→His, in a Canadian Family  Journal Articles
• Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.  Journal Articles
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Journal Articles
• Hereditary site-specific colon cancer in a Canadian kindred.  Journal Articles
• Hereditary site-specific colon cancer in a Canadian kindred.  Journal Articles
• Heterozygous NOTCH1 deletion associated with variable congenital heart defects  Journal Articles
• High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]  Journal Articles
• High functioning autism and Childhood Disintegrative Disorder in half brothers.  Journal Articles
• Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report  Journal Articles
• Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA.  Journal Articles
• Hyperornithinemia and Gyrate Atrophy of the Choroid and Retina  Journal Articles
• Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies  Journal Articles
• Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy  Journal Articles
• Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome  Journal Articles
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Journal Articles
• Is There a Gradient in Life Span by Position in the Social Hierarchy?  Journal Articles
• Is Uterine Papillary Serous Adenocarcinoma a Manifestation of the Hereditary Breast–Ovarian Cancer Syndrome?  Journal Articles
• Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders  Journal Articles
• Large Electroencephalographic Responses and Their Relationship to Cleido-Cranial Dysplasia  Journal Articles
• 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  Journal Articles
• Linkage analysis of 26 Canadian breast and breast-ovarian cancer families  Journal Articles
• Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.  Journal Articles
• Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37  Journal Articles
• Linkage and association analysis in pedigrees from different populations  Journal Articles
• Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13  Journal Articles
• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases  Journal Articles
• MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation  Journal Articles
• Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers  Journal Articles
• Management of anti-thrombin III deficiency during pregnancy without administration of anti-thrombin III  Journal Articles
• Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.  Journal Articles
• Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases  Journal Articles
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Journal Articles
• Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy  Journal Articles
• Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7  Journal Articles
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Journal Articles
• Molecular breakpoint mapping of 6q11‐q14 interstitial deletions in seven patients  Journal Articles
• Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation  Journal Articles
• Multimerin: a bench-to-bedside chronology of a unique platelet and endothelial cell protein--from discovery to function to abnormalities in disease.  Journal Articles
• Multiple Tumors in a Child with Germ-Line Mutations inTP53andPTEN  Journal Articles
• Mutation Analysis in F9 Gene of 17 Families with Haemophilia B from Iran  Conferences
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Journal Articles
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Journal Articles
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Journal Articles
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Journal Articles
• Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)  Journal Articles
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Journal Articles
• Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification  Journal Articles
• POLRMT mutations impair mitochondrial transcription causing neurological disease  Journal Articles
• Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene  Journal Articles
• PedSplit: pedigree management for stratified analysis  Journal Articles
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Journal Articles
• Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization  Journal Articles
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Journal Articles
• Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation  Journal Articles
• Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder  Journal Articles
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Journal Articles
• Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation  Journal Articles
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Journal Articles
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Journal Articles
• Pretibial epidermolysis bullosa: Report of a case  Journal Articles
• Proceed with care: direct predictive testing for Huntington disease.  Journal Articles
• Prolongation of Brainstem Auditory-Evoked Responses in Autistic Probands and Their Unaffected Relatives  Journal Articles
• Prospective study of high-risk, BRCA1/2-mutation negative women: the ‘negative study’  Journal Articles
• Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene  Journal Articles
• RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY  Journal Articles
• Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD  Journal Articles
• Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder  Journal Articles
• Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States  Journal Articles
• Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.  Journal Articles
• Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)  Journal Articles
• Relationship between socioeconomic status and asthma: a longitudinal cohort study  Journal Articles
• Reliability of race assessment based on the race of the ascendants: a cross-sectional study  Journal Articles
• SHANK1 Deletions in Males with Autism Spectrum Disorder  Journal Articles
• SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects  Journal Articles
• Schimke immunoosseous dysplasia complicated by moyamoya phenomenon  Journal Articles
• Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees  Journal Articles
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Journal Articles
• Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)  Journal Articles
• Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.  Journal Articles
• 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  Journal Articles
• Study of alleles of the second complement component (C2) on Canadian HLA haplotypes  Journal Articles
• Succinylcholine sensitivity in a nova scotia family  Journal Articles
• Suicidal Behavior Runs in Families  Journal Articles
• TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis  Journal Articles
• THE EFFECT OF TEMPERATURE ON FLUORIDE-RESISTANT SERUM CHOLINESTERASE  Journal Articles
• Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update  Journal Articles
• Temporomandibular dysplasia in American Cocker Spaniels  Journal Articles
• The Genetic Distance between the Coagulation Factor IX Gene and the Locus for the Fragile X Syndrome: Clinical Implications  Journal Articles
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Journal Articles
• The ascent of man: deductions based on a multivariate analysis of the brain.  Journal Articles
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Journal Articles
• The fragile‐X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs)  Journal Articles
• Thrombosis in Antithrombin-III-deficient Persons  Journal Articles
• Tissue specificity of oncogene action: endothelial cell tumours in polyoma middle T transgenic mice.  Journal Articles
• Tracking mtDNA Heteroplasmy through Multiple Generations in the North Atlantic Right Whale (Eubalaena glacialis)  Journal Articles
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Journal Articles
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Journal Articles
• Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]  Journal Articles
• Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A  Journal Articles
• Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes  Journal Articles
• Variable distribution of mutant mitochondria1 DNAs (tRNA ^Leu[3243]) in tissues of symptomatic relatives with MELAS  Journal Articles
• Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.  Journal Articles
• Variation of Phenotype in Charcot-Marie-Tooth Disease  Journal Articles
• Vialetto-Van Laere syndrome in two sisters born to consanguineous parents  Journal Articles
• Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Journal Articles
• Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Journal Articles
• X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY  Journal Articles
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Journal Articles