about
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing lossExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyA mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing lossThe Genetics of Deafness in Domestic AnimalsHearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.Do deaf individuals see better?Predicting candidate genes for human deafness disorders: a bioinformatics approachPost-translational modifications of connexin26 revealed by mass spectrometry.A comparison of vestibular and auditory phenotypes in inbred mouse strains.Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing lossGenetics of congenital hearing impairment: a clinical approach.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Genetics of hearing loss: where are we standing now?A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing ImpairmentLack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.Exonic mutations and exon skipping: Lessons learned from DFNA5.Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss.A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.Auditory measurements in parents of individuals with autosomal recessive hearing loss.Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
P2860
Q24301501-A71A0FE0-7B9C-485B-A8E1-0FAF8726C6F9Q24314717-FB0192F3-3E8C-4467-9F49-7A8994B9D365Q24670142-6DD3645D-053A-487D-BE77-826F1698E950Q26776085-44868C9D-A42D-4F78-98E7-A7CEE19AB342Q30411041-E8D710F1-E8AA-47A2-8803-D7A84DFFB94EQ30420179-816B80A7-C689-4B10-B6EC-9C1B62E9C34FQ30451057-C39BC4D5-E33B-4570-B247-CBDE17736766Q30462787-C8BB3A7D-3C7F-4816-B65C-EC28704C5856Q33251025-DF65680D-F54C-4C0C-B6FE-C1550E0DAFD6Q33506159-9768A44E-D16B-49E1-834A-7AD00EC19B5BQ33808646-D7406404-C92D-4E2F-8081-9F44FC00CFF9Q35103804-984AB3FC-D21C-4ED7-9AF3-C4040EBE2491Q37271361-6601A719-CB8E-4F63-8F13-800266C8EB9BQ37280853-2008F8F1-C7DE-421E-837B-0155B6FACE8AQ37637310-27B99886-3C4C-4040-9DAB-DEAE4F857144Q37973278-2A2FF115-FF91-4496-A890-A185AAA0CCD1Q41977232-C4E16D30-5F64-47FC-BE1A-C095278AC381Q44969532-3AE97CF9-1EA6-4416-86A5-9B770EBC6374Q47265970-82CFD907-E27C-4115-8DAB-ABB0AEFD3D38Q50315324-3E0490DA-0ED5-4F48-B099-4D901CAB22FFQ50346367-4CFFB747-48F7-476B-A710-546A476383CDQ50435270-9179C710-D1EA-472B-AEE9-ED4EC937718CQ53727447-9679E383-7627-46E1-A940-D8727F528767
P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Non-syndromic autosomal-dominant deafness.
@ast
Non-syndromic autosomal-dominant deafness.
@en
Non-syndromic autosomal-dominant deafness.
@nl
type
label
Non-syndromic autosomal-dominant deafness.
@ast
Non-syndromic autosomal-dominant deafness.
@en
Non-syndromic autosomal-dominant deafness.
@nl
prefLabel
Non-syndromic autosomal-dominant deafness.
@ast
Non-syndromic autosomal-dominant deafness.
@en
Non-syndromic autosomal-dominant deafness.
@nl
P2860
P1433
P1476
Non-syndromic autosomal-dominant deafness.
@en
P2093
Petersen MB
P2860
P356
10.1034/J.1399-0004.2002.620101.X
P577
2002-07-01T00:00:00Z