The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
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Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese IndividualsEtiology and audiological outcomes at 3 years for 364 children in Australia.Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.Functional evaluation of GJB2 variants in nonsyndromic hearing loss.A systematic review and meta-analysis of 235delC mutation of GJB2 geneGJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.Genetics of congenital hearing impairment: a clinical approach.GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss.SNaPshot reveals high mutation and carrier frequencies of 15 common hearing loss mutants in a Chinese newborn cohort.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.Prevalence and risk factors for mild and high-frequency bilateral sensorineural hearing loss at age 11 years old: a UK prospective cohort study.Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations
P2860
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P2860
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
The contribution of GJB2 mutat ...... an elementary school children.
@ast
The contribution of GJB2 mutat ...... an elementary school children.
@en
type
label
The contribution of GJB2 mutat ...... an elementary school children.
@ast
The contribution of GJB2 mutat ...... an elementary school children.
@en
prefLabel
The contribution of GJB2 mutat ...... an elementary school children.
@ast
The contribution of GJB2 mutat ...... an elementary school children.
@en
P2093
P2860
P356
P1476
The contribution of GJB2 mutat ...... an elementary school children.
@en
P2093
B Cone-Wesson
F W Rickards
H-H M Dahl
J Williams
K Saunders
Z Poulakis
P2860
P304
P356
10.1136/JMG.2006.042051
P407
P50
P577
2006-07-13T00:00:00Z