Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
about
Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencing"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineExome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden deathAchieving high-sensitivity for clinical applications using augmented exome sequencingA Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical CareMutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPNovel bioinformatic developments for exome sequencingRecommendations on e-infrastructures for next-generation sequencingClinical Genetic Testing in GastroenterologyImpact of New Genomic Technologies on Understanding Adverse Drug ReactionsPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Clinical application of next-generation sequencing for Mendelian diseasesThe National Institutes of Health undiagnosed diseases programThe diagnostic approach to monogenic very early onset inflammatory bowel diseaseSomatic mosaicism: implications for disease and transmission geneticsLoss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionStructural variation mutagenesis of the human genome: Impact on disease and evolution.Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsRecent advances in prenatal genetic screening and testingDiscovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicineNew insights into the generation and role of de novo mutations in health and diseaseNext generation sequencing: Coping with rare genetic diseases in ChinaInsights from exome sequencing for endocrine disordersTMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsA Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyMutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossDiagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisGRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersThe population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequencesExplorations to improve the completeness of exome sequencingHigh-throughput sequencing technologiesA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismAn expanded sequence context model broadly explains variability in polymorphism levels across the human genomeIndividualized medicine from prewomb to tombDiagnostic NGS for Severe Neuromuscular Disorders.
P2860
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P2860
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@ast
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@en
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@nl
type
label
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@ast
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@en
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@nl
prefLabel
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@ast
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@en
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@nl
P2093
P2860
P356
P1476
Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
@en
P2093
Alecia Willis
Alicia Braxton
Amelia Kirby
Arthur L Beaudet
Christine M Eng
Donna M Muzny
James R Lupski
Jeffrey G Reid
Jennifer Scull
P2860
P304
P356
10.1056/NEJMOA1306555
P407
P577
2013-10-02T00:00:00Z