Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
about
Connexin 26 mutations in autosomal recessive deafness disorders: a reviewPrevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.Audiologic phenotype and progression in GJB2 (Connexin 26) hearing lossMolecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.Genetics of congenital hearing impairment: a clinical approach.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.Research of genetic bases of hereditary non-syndromic hearing loss.Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.Is hearing loss due to mutations in the Connexin 26 gene progressive?
P2860
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P2860
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
description
2005 nî lūn-bûn
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2005年の論文
@ja
2005年学术文章
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2005年学术文章
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2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
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2005年學術文章
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2005年學術文章
@zh-hant
name
Hearing impairment in Dutch pa ...... connexin 30 (GJB6) mutations.
@en
Hearing impairment in Dutch patients with connexin 26
@nl
type
label
Hearing impairment in Dutch pa ...... connexin 30 (GJB6) mutations.
@en
Hearing impairment in Dutch patients with connexin 26
@nl
prefLabel
Hearing impairment in Dutch pa ...... connexin 30 (GJB6) mutations.
@en
Hearing impairment in Dutch patients with connexin 26
@nl
P2093
P1476
Hearing impairment in Dutch pa ...... connexin 30 (GJB6) mutations.
@en
P2093
Cor W R J Cremers
Hannie Kremer
Ilse J de Wijs
Kim P van der Donk
Lies H Hoefsloot
Martijn H Kemperman
Patrick L M Huygen
Regie Lyn P Santos
Ronald J C Admiraal
P304
P356
10.1016/J.IJPORL.2004.08.015
P577
2005-02-01T00:00:00Z