Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
about
Next generation sequencing: Coping with rare genetic diseases in ChinaPOU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossA Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese HansMassively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareComparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
P2860
Q28077918-44307123-9790-4B42-9958-7966F7387325Q30355741-FC250EC2-9513-4E77-8CAC-FB1BDF9FA8E8Q30367651-14E2417E-34E4-4335-8480-CF41C9609402Q36498529-67B9BECB-4D04-4A90-805C-F62DC3097F67Q37206548-B8B1AAF6-9C3A-4674-965B-BB9C919B74E1Q37526998-136263AF-2F64-4B71-8E8D-6C9C06C057E5Q38267074-8A26FB93-500F-435B-A423-3D522C80F8CFQ38495799-4717C277-EF91-4E25-BA03-0209B7BA8791Q40874236-A6C0400C-95D5-4420-BA26-6BC75EA68273Q41311819-04DA2CD0-3034-48A5-B067-F09B3B59F440Q52660770-7FA91DB2-DDD7-459E-A0EC-BA0E35D5B7C5Q55481612-CB730B7B-CA0B-4BD3-9F3B-CC0CDECCEFF5
P2860
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին 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
Targeted genomic capture and m ...... inese hereditary hearing loss.
@ast
Targeted genomic capture and m ...... inese hereditary hearing loss.
@en
Targeted genomic capture and m ...... inese hereditary hearing loss.
@nl
type
label
Targeted genomic capture and m ...... inese hereditary hearing loss.
@ast
Targeted genomic capture and m ...... inese hereditary hearing loss.
@en
Targeted genomic capture and m ...... inese hereditary hearing loss.
@nl
prefLabel
Targeted genomic capture and m ...... inese hereditary hearing loss.
@ast
Targeted genomic capture and m ...... inese hereditary hearing loss.
@en
Targeted genomic capture and m ...... inese hereditary hearing loss.
@nl
P2093
P2860
P1476
Targeted genomic capture and m ...... inese hereditary hearing loss.
@en
P2093
Guangqian Xing
Hongmei Zhu
Qinjun Wei
Zhibin Chen
P2860
P2888
P356
10.1186/S12967-014-0311-1
P577
2014-11-12T00:00:00Z
P5875
P6179
1017993613