Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
about
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohortA novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian familyCombined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing LossEvaluation of three read-depth based CNV detection tools using whole-exome sequencing dataThe diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss.Hereditary hearing loss SNP-microarray pilot study.
P2860
Q27324049-13E17480-DE73-4510-8B34-0087D68FA25CQ30385875-1F062F37-C5BC-48AD-9500-8C757D027197Q30427880-99848CE4-5BF9-4A42-91C9-CF355E951A58Q36113695-C1BCC608-20BE-482A-B602-F2F134D3EA1BQ38602860-E5809D8F-883E-48C4-8D8A-81C9823DFAEBQ39078366-DA24BBCA-F708-4B12-8F0C-82F2270F40B1Q42146170-ED66DF70-43D0-4CBF-A2C2-906ECF37407BQ50351695-A487F967-287C-4626-99F2-08B7B4D8DDA4Q55436692-3A98857A-540A-4FEC-B907-25BAEE897384
P2860
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին 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
Identification of copy number ...... ive nonsyndromic hearing loss.
@ast
Identification of copy number ...... ive nonsyndromic hearing loss.
@en
type
label
Identification of copy number ...... ive nonsyndromic hearing loss.
@ast
Identification of copy number ...... ive nonsyndromic hearing loss.
@en
prefLabel
Identification of copy number ...... ive nonsyndromic hearing loss.
@ast
Identification of copy number ...... ive nonsyndromic hearing loss.
@en
P2093
P2860
P50
P356
P1476
Identification of copy number ...... sive nonsyndromic hearing loss
@en
P2093
Derek Van Booven
Filiz Basak Cengiz
Joseph Foster
Oscar Diaz-Horta
Shengru Guo
Susan Blanton
P2860
P304
P356
10.1089/GTMB.2014.0121
P577
2014-07-25T00:00:00Z