Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
about
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.Wolfram syndrome: MAMs' connection?Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q30385725-73C9414B-5B23-45B1-BF0A-0965FCC393AEQ30405367-F3CEA46E-0C52-4B18-A4CF-E955B63EAB6EQ34301731-24BC9A54-7F5B-4AFF-92A0-2087078E58D9Q37319314-4BED918C-1327-411A-821D-8F3E34F10018Q48197280-80370641-EC63-4CFD-9A28-3A7B1A7C382EQ52660770-65C784CF-E14A-44B9-96B3-78AD9F761B7CQ52671146-29A3B1DB-0C16-488A-9E82-F80DC77D59BBQ54946696-6165347C-82C9-4E50-92CD-50B6CB406147Q57455558-C6E2556A-AA4E-47D1-9794-13FB2BF2EB3B
P2860
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@ast
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@en
Autosomal dominant optic neuro ...... with a novel mutation of WFS1.
@nl
type
label
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@ast
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@en
Autosomal dominant optic neuro ...... with a novel mutation of WFS1.
@nl
prefLabel
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@ast
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@en
Autosomal dominant optic neuro ...... with a novel mutation of WFS1.
@nl
P2093
P2860
P1433
P1476
Autosomal dominant optic neuro ...... with a novel mutation of WFS1
@en
P2093
Barend F T Hogewind
Cor W R J Cremers
Elisabeth H Hoefsloot
Frans A Hol
Henricus P M Kunst
Johannes R M Cruysberg
Ronald J E Pennings
P2860
P577
2010-01-12T00:00:00Z