Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
about
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.Exome sequencing identifies ZNF644 mutations in high myopiaWhole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientRET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma familyWhole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesMutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseWhole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.Human genetics and genomics a decade after the release of the draft sequence of the human genomeA tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers.Ancient DNA studies: new perspectives on old samplesHuman genome sequencing in health and diseaseToward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHDMedical implications of technical accuracy in genome sequencingWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsA form of the metabolic syndrome associated with mutations in DYRK1BTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79The essential role of centrosomal NDE1 in human cerebral cortex neurogenesisHomozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathyITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfectaClinical application of exome sequencing in undiagnosed genetic conditionsExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisBRAF mutations in hairy-cell leukemiaClinical assessment incorporating a personal genomeMutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeExome sequencing reveals VCP mutations as a cause of familial ALSUltra-rare Disease and Genomics-Driven Precision MedicineCracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesSomatic mosaicism in the human genomeRole of genetics in pediatric inflammatory bowel diseaseMassively parallel sequencing: the new frontier of hematologic genomicsGenetics of congenital heart disease: the glass half emptyWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesUpdate on the genetics of bardet-biedl syndromeExome sequencing and complex disease: practical aspects of rare variant association studiesA public resource facilitating clinical use of genomesA gain-of-function mutation in adenylate cyclase 3 protects mice from diet-induced obesityCo-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities.
P2860
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P2860
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@ast
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en-gb
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@nl
type
label
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@ast
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en-gb
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@nl
prefLabel
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@ast
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en-gb
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@nl
P2093
P2860
P3181
P356
P1476
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
@en
P2093
Ahmet Nayir
Anita Farhi
Ayşin Bakkaloğlu
Carol Nelson-Williams
Irina R Tikhonova
Paul Zumbo
Richard P Lifton
Sami Sanjad
Shrikant Mane
P2860
P304
19096-19101
P3181
P356
10.1073/PNAS.0910672106
P407
P50
P577
2009-10-27T00:00:00Z