Cx26 deafness: mutation analysis and clinical variability.
about
The role of connexins in ear and skin physiology - functional insights from disease-associated mutationsA fully atomistic model of the Cx32 connexonReduced Connexin26 in the Mature Cochlea Increases Susceptibility to Noise-Induced Hearing Lossin MiceConnexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platformEtiology and audiological outcomes at 3 years for 364 children in Australia.A genotype-phenotype correlation for GJB2 (connexin 26) deafness.GJB2 mutations and degree of hearing loss: a multicenter study.Connexin mutations in skin disease and hearing loss.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Congenital cytomegalovirus infection in pediatric hearing lossScreening of connexin 26 in nonsyndromic hearing loss.Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technologyDiverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.A novel compound heterozygous mutation in the GJB2 gene causing non-syndromic hearing loss in a family.Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss.A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia
P2860
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P2860
Cx26 deafness: mutation analysis and clinical variability.
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Cx26 deafness: mutation analysis and clinical variability.
@ast
Cx26 deafness: mutation analysis and clinical variability.
@en
type
label
Cx26 deafness: mutation analysis and clinical variability.
@ast
Cx26 deafness: mutation analysis and clinical variability.
@en
prefLabel
Cx26 deafness: mutation analysis and clinical variability.
@ast
Cx26 deafness: mutation analysis and clinical variability.
@en
P2093
P2860
P1476
Cx26 deafness: mutation analysis and clinical variability.
@en
P2093
E Leonardi
F Zacchello
M Martella
P2860
P304
P407
P577
1999-11-01T00:00:00Z