Pedigree Concept

subject area of

• CDKN2AMutations in Multiple Primary Melanomas  Academic Article
• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Academic Article
• IRAK-4Mutation (Q293X): Rapid Detection and Characterization of Defective Post-Transcriptional TLR/IL-1R Responses in Human Myeloid and Non-Myeloid Cells  Academic Article
• TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study  Academic Article
• l-Glutaric Acidemia: Investigation of a Patient and His Family  Academic Article
• A CGG-Repeat Expansion Mutation inZNF713Causes FRA7A: Association with Autistic Spectrum Disorder in two Families  Academic Article
• A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems  Academic Article
• A New Mutation in the Thyroid Hormone Receptor (TR) β Gene (V458A) in a Family with Resistance to Thyroid Hormone (RTH)  Academic Article
• A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog  Academic Article
• A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred  Academic Article
• A fertile man with tdic(Y;22): How a stable neo-X1X2Y sex-determining mechanism could evolve in man  Academic Article
• A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?  Academic Article
• A full genome search in multiple sclerosis  Academic Article
• A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees  Academic Article
• A molecular genetic study of factor XI deficiency  Academic Article
• A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family  Academic Article
• A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred  Academic Article
• A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity  Academic Article
• A novel congenital haemostatic defect  Academic Article
• A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene  Academic Article
• A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome  Academic Article
• A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease  Academic Article
• A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family  Academic Article
• A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.  Academic Article
• A unique BRCA1 mutation identified in Mongolia  Academic Article
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies  Academic Article
• ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis  Academic Article
• 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
• Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis  Academic Article
• An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13  Academic Article
• 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
• An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster  Academic Article
• 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
• Analysis of the SIM1 Contribution to Polygenic Obesity in the French Population  Academic Article
• Antithrombin III Sudbury: An Ala384 → pro mutation with abnormal thrombin-binding activity and thrombotic diathesis  Academic Article
• Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity  Academic Article
• Asia–Pacific consensus guidelines on gastric cancer prevention  Academic Article
• Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage  Academic Article
• Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry  Academic Article
• Autosomal dominant hyaline body myopathy: Clinical variability and pathologic findings  Academic Article
• Biallelic variants inWARS2encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy  Academic Article
• Bleeding risks associated with inheritance of the Quebec platelet disorder  Academic Article
• Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer  Academic Article
• Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario.  Academic Article
• Carrier detection in the hemophilias  Academic Article
• Carrier detection of haemophilia A using DNA markers in families with an isolated affected male  Academic Article
• Characterization of Class I– and Class II–Like Major Histocompatibility Complex Loci in Pedigrees of North Atlantic Right Whales  Academic Article
• Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders  Academic Article
• Cholesterol Metabolism and Suicidality in Smith-Lemli-Opitz Syndrome Carriers  Academic Article
• Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration  Academic Article
• Chronic Renal Failure and Proteinuria in Adulthood: Fabry Disease Predominantly Affecting the Kidneys  Academic Article
• Clinical and Methodological Factors Related to Reliability of the Best-Estimate Diagnostic Procedure  Academic Article
• Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study  Academic Article
• Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation  Academic Article
• Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation  Academic Article
• 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
• Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency  Academic Article
• Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies  Academic Article
• Computerized videokeratography of keratoconus kindreds.  Academic Article
• Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the  -subunit of cone specific transducin (GNAT2)  Academic Article
• Contribution of SHANK3 mutations to autism spectrum disorder.  Academic Article
• Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders  Academic Article
• Cystathioninuria and Renal Iminoglycinuria in a Pedigree  Academic Article
• DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome  Academic Article
• DNA Marker Studies Show That Machado Joseph Disease is Not an Allele of The Huntingdon Disease Locus  Academic Article
• De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy  Academic Article
• Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing  Academic Article
• Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11  Academic Article
• Diagnosis of arylsulfatase A deficiency  Academic Article
• 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
• Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families?  Academic Article
• Down’s Syndrome Associated with a Familial (21q—;22q+) Translocation  Academic Article
• Early and lethal neurodegeneration with myasthenic and myopathic features  Academic Article
• Effects of TCF7L2 Polymorphisms on Obesity in European Populations  Academic Article
• Effects of misclassification on estimates of relative risk in family history studies  Academic Article
• Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant  Academic Article
• Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemiaa  Academic Article
• Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington disease.  Academic Article
• Evidence for synergistic effects of PRNP and ATP7Bmutations in severe neuropsychiatric deterioration  Academic Article
• Evidence of a Founder Effect for the Protein C Gene 3363 Inserted C Mutation in Thrombophilic Pedigrees of French Origin  Academic Article
• Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia  Academic Article
• Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome  Academic Article
• Familial Aggregation of Psychiatric Disorders in a Community Sample of Adolescents  Academic Article
• Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations  Academic Article
• Familial Diffuse Cystic Angiomatosis of Bone  Academic Article
• Familial Evans Syndrome  Academic Article
• Familial dysmyelination in a Long Evans rat mutant.  Academic Article
• Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion  Academic Article
• Familial thrombophilia and the prothrombin 20210A mutation  Academic Article
• Familial variant of dermatofibroma with malignancy in the proband  Academic Article
• Family Practice Grand Rounds. Care of a troubled family and their child with sickle cell anemia.  Academic Article
• Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy  Academic Article
• Frameshift mutation in the APOA5 gene causing hypertriglyceridemia in a Pakistani family: Management and considerations for cardiovascular risk  Academic Article
• Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer  Academic Article
• Further localization of X-linked hydrocephalus in the chromosomal region Xq28.  Academic Article
• GLUTAMIC ACID DECARBOXYLASE (GAD) IN MAMMALIAN TISSUE OUTSIDE THE CENTRAL NERVOUS SYSTEM, AND ITS POSSIBLE RELEVANCE TO HEREDITARY VITAMIN B₆DEPENDENCY WITH SEIZURES  Academic Article
• Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice  Academic Article
• Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation  Academic Article
• Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family  Academic Article
• Genetic Polymorphisms of Human Mitochondrial Glutamic Oxaloacetic Transaminase  Academic Article
• Genetic linkage studies in antithrombin-deficient kindreds using a highly polymorphic trinucleotide short tandem repeat (str) within the human antithrombin gene  Academic Article
• Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.  Academic Article
• Germline mosaicism in Cornelia de Lange syndrome  Academic Article
• Gova/b alloantigen system on human platelets  Academic Article
• Haemoglobin D Los Angeles, D-β⁺-Thalassaemia, and D-β°- Thalassaemia  Academic Article
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Academic Article
• Hb E/Hb LeporeHollandia in a family from Bangladesh  Academic Article
• Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing  Academic Article
• Hb H hydrops foetalis syndrome: a case report and review of literature  Academic Article
• Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α-thalassemia  Academic Article
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Academic Article
• Hemoglobinopathies: three illustrative case studies  Academic Article
• Hemoglobiri_Bethesda, β145 (HC2) Tyr→His, in a Canadian Family  Academic Article
• Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.  Academic Article
• Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations  Academic Article
• Hereditary site-specific colon cancer in a Canadian kindred.  Academic Article
• Hereditary site-specific colon cancer in a Canadian kindred.  Academic Article
• Heterozygous NOTCH1 deletion associated with variable congenital heart defects  Academic Article
• High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]  Academic Article
• High functioning autism and Childhood Disintegrative Disorder in half brothers.  Academic Article
• Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report  Academic Article
• Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA.  Academic Article
• Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies  Academic Article
• Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy  Academic Article
• Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome  Academic Article
• Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome  Academic Article
• Is There a Gradient in Life Span by Position in the Social Hierarchy?  Academic Article
• Is Uterine Papillary Serous Adenocarcinoma a Manifestation of the Hereditary Breast–Ovarian Cancer Syndrome?  Academic Article
• 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
• Large Electroencephalographic Responses and Their Relationship to Cleido-Cranial Dysplasia  Academic Article
• 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
• Linkage analysis of a DNA marker localized to 20p12 and multiple endocrine neoplasia type 2A.  Academic Article
• Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37  Academic Article
• Linkage and association analysis in pedigrees from different populations  Academic Article
• Linkage disequilibrium and modification of risk for Huntington disease.  Academic Article
• Localization of X-Linked Dominant Charcot-Marie-Tooth Disease (CMT 2) to Xq13  Academic Article
• Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations  Academic Article
• Loss-of-Function Mutations in MC4R Are Very Rare in the Greek Severely Obese Adult Population  Academic Article
• MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation  Academic Article
• Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers  Academic Article
• Management of anti-thrombin III deficiency during pregnancy without administration of anti-thrombin III  Academic Article
• Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.  Academic Article
• Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1  Academic Article
• Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy  Academic Article
• Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling  Academic Article
• Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients  Academic Article
• Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation  Academic Article
• 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
• Multimerin: a bench-to-bedside chronology of a unique platelet and endothelial cell protein--from discovery to function to abnormalities in disease.  Academic Article
• Multiple Tumors in a Child with Germ-Line Mutations inTP53andPTEN  Academic Article
• Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy  Academic Article
• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy  Academic Article
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly  Academic Article
• Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome  Academic Article
• Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.  Academic Article
• Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease  Academic Article
• Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: A clarification  Academic Article
• POLRMT mutations impair mitochondrial transcription causing neurological disease  Academic Article
• Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene  Academic Article
• Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making  Academic Article
• Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature  Academic Article
• PedSplit: pedigree management for stratified analysis  Academic Article
• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease  Academic Article
• Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)  Academic Article
• Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation  Academic Article
• 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
• Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.  Academic Article
• Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders  Academic Article
• Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders  Academic Article
• Presence of Alanine-to-Valine Substitutions in Myofibrillogenesis Regulator 1 in Paroxysmal Nonkinesigenic Dyskinesia  Academic Article
• Pretibial epidermolysis bullosa: Report of a case  Academic Article
• Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees  Academic Article
• Proceed with care: direct predictive testing for Huntington disease.  Academic Article
• Prolongation of Brainstem Auditory-Evoked Responses in Autistic Probands and Their Unaffected Relatives  Academic Article
• Prospective study of high-risk, BRCA1/2-mutation negative women: the ‘negative study’  Academic Article
• Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene  Academic Article
• R125W coding variant in TBC1D1 confers risk for familial obesity and contributes to linkage on chromosome 4p14 in the French population  Academic Article
• RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY  Academic Article
• Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD  Academic Article
• Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder  Academic Article
• Rarity of the Alzheimer Disease–ProtectiveAPPA673T Variant in the United States  Academic Article
• Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.  Academic Article
• Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)  Academic Article
• Relationship between socioeconomic status and asthma: a longitudinal cohort study  Academic Article
• Reliability of race assessment based on the race of the ascendants: a cross-sectional study  Academic Article
• Risk Reversals in Predictive Testing for Huntington Disease  Academic Article
• SHANK1 Deletions in Males with Autism Spectrum Disorder  Academic Article
• SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects  Academic Article
• ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions  Academic Article
• Schimke immunoosseous dysplasia complicated by moyamoya phenomenon  Academic Article
• Segregating patterns of copy number variations in extended autism spectrum disorder ( ASD ) pedigrees  Academic Article
• Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma  Academic Article
• Sentinel Symptoms in Patients with Unexplained Cardiac Arrest: From the Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)  Academic Article
• Simplified Canadian Definition for Familial Hypercholesterolemia  Academic Article
• Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects  Academic Article
• 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
• Study of alleles of the second complement component (C2) on Canadian HLA haplotypes  Academic Article
• Succinylcholine sensitivity in a nova scotia family  Academic Article
• Suicidal Behavior Runs in Families  Academic Article
• TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis  Academic Article
• THE EFFECT OF TEMPERATURE ON FLUORIDE-RESISTANT SERUM CHOLINESTERASE  Academic Article
• The Melanocortin 4 Receptor p.Ile269Asn Mutation Is Associated with Childhood and Adult Obesity in Mexicans  Academic Article
• The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome  Academic Article
• The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families  Academic Article
• 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
• The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations  Academic Article
• Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome  Academic Article
• Thrombosis in Antithrombin-III-deficient Persons  Academic Article
• Tissue specificity of oncogene action: endothelial cell tumours in polyoma middle T transgenic mice.  Academic Article
• Tracking mtDNA Heteroplasmy through Multiple Generations in the North Atlantic Right Whale (Eubalaena glacialis)  Academic Article
• Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia  Academic Article
• Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis  Academic Article
• Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]  Academic Article
• Undetected factor VIII in a patient with type 3 von Willebrands disease mistaken as severe haemophilia A  Academic Article
• Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes  Academic Article
• VITAMIN D DEPENDENCY: AN INHERITED POSTNATAL SYNDROME WITH SECONDARY HYPERPARATHYROIDISM  Academic Article
• Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation  Academic Article
• Variation of Phenotype in Charcot-Marie-Tooth Disease  Academic Article
• Vialetto-Van Laere syndrome in two sisters born to consanguineous parents  Academic Article
• Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study  Academic Article
• Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum  Academic Article
• X-LINKED DOMINANT HEREDITARY MOTOR AND SENSORY NEUROPATHY  Academic Article
• [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].  Academic Article
• p53 compound heterozygosity in a severely affected child with Li-Fraumeni Syndrome  Academic Article