about
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleSimilar phenotypes caused by mutations in OTOG and OTOGL.Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platformLinkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing lossAdvances in Auditory and Vestibular Medicine.Determination of hair cell metabolic state in isolated cochlear preparations by two-photon microscopy.Hereditary non-syndromic sensorineural hearing loss: transforming silence to soundPredicting candidate genes for human deafness disorders: a bioinformatics approachIdentification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing lossThe large Chinese family with Y-linked hearing loss revisited: clinical investigation.Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Inherited hearing loss: molecular genetics and diagnostic testing.Research of genetic bases of hereditary non-syndromic hearing loss.Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.Grxcr2 is required for stereocilia morphogenesis in the cochlea
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Nonsyndromic hearing loss.
@ast
Nonsyndromic hearing loss.
@en
type
label
Nonsyndromic hearing loss.
@ast
Nonsyndromic hearing loss.
@en
prefLabel
Nonsyndromic hearing loss.
@ast
Nonsyndromic hearing loss.
@en
P1433
P1476
Nonsyndromic hearing loss
@en
P2093
Lut Van Laer
P304
P356
10.1097/01.AUD.0000079805.04016.03
P577
2003-08-01T00:00:00Z