Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.
about
Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing lossMassively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareThe diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss.Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
P2860
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P2860
Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Combined examination of sequen ...... for cases of genetic deafness.
@ast
Combined examination of sequen ...... for cases of genetic deafness.
@en
type
label
Combined examination of sequen ...... for cases of genetic deafness.
@ast
Combined examination of sequen ...... for cases of genetic deafness.
@en
prefLabel
Combined examination of sequen ...... for cases of genetic deafness.
@ast
Combined examination of sequen ...... for cases of genetic deafness.
@en
P2093
P2860
P356
P1476
Combined examination of sequen ...... for cases of genetic deafness.
@en
P2093
P2860
P2888
P356
10.1186/1472-6815-14-9
P577
2014-09-10T00:00:00Z
P5875
P6179
1000420687