Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
about
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessIdentification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencingIdentification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyExome sequencing from nanogram amounts of starting DNA: comparing three approaches.Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsWhole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked familyMutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation.Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
P2860
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P2860
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին 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
Whole-exome sequencing identif ...... earing loss in Korean families
@ast
Whole-exome sequencing identif ...... earing loss in Korean families
@en
Whole-exome sequencing identif ...... earing loss in Korean families
@nl
type
label
Whole-exome sequencing identif ...... earing loss in Korean families
@ast
Whole-exome sequencing identif ...... earing loss in Korean families
@en
Whole-exome sequencing identif ...... earing loss in Korean families
@nl
prefLabel
Whole-exome sequencing identif ...... earing loss in Korean families
@ast
Whole-exome sequencing identif ...... earing loss in Korean families
@en
Whole-exome sequencing identif ...... earing loss in Korean families
@nl
P2093
P2860
P356
P1433
P1476
Whole-exome sequencing identif ...... earing loss in Korean families
@en
P2093
Borum Sagong
Hae-Mi Woo
Hong-Joon Park
Jeong-In Baek
Mi-Hyun Park
Soo Kyung Koo
Un-Kyung Kim
P2860
P2888
P356
10.1186/1471-2350-14-72
P577
2013-07-17T00:00:00Z
P5875
P6179
1052723456