Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
about
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss familyPhenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.Genetics of Tinnitus: Still in its Infancy.Actin in hair cells and hearing loss.Using cluster analysis to classify audiogram shapes.Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
P2860
Q21266678-22354736-1040-4E22-AC97-CE9D693BA417Q27317239-394AD17B-8991-42C8-A793-C7F9F6F9045BQ30355940-93954E7E-EA8B-4CC9-A8BF-AF72D971F884Q30454015-41DEBFEE-F64C-48D8-849E-222F13456AE6Q48660723-C339F67C-45BD-40EE-9C67-365958FF2816Q50055310-597869C9-CCCD-413A-A0A8-EFE2477B6913Q50316600-B9F12667-B0DA-467B-A096-8AB93F8CEDBCQ50352845-B44CA321-4A2C-4AE1-91B1-A6AD8CAAE086
P2860
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.
description
2009 nî lūn-bûn
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name
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@en
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@nl
type
label
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@en
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@nl
prefLabel
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@en
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@nl
P2093
P2860
P1476
Audiometric and vestibular fea ...... ith a novel mutation in ACTG1.
@en
P2093
Anne-Martine R de Heer
Cor W R J Cremers
Hannie Kremer
Jaap Oostrik
Patrick L M Huygen
Rob W J Collin
P2860
P304
P356
10.1177/000348940911800511
P577
2009-05-01T00:00:00Z