A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
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Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screenExploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domainStrong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function
P2860
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P2860
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@en
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@nl
type
label
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@en
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@nl
prefLabel
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@en
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@nl
P2093
P2860
P1476
A novel mutation of TMPRSS3 re ...... lized auditory rehabilitation.
@en
P2093
Ah Reum Kim
Byung Yoon Choi
Dongsup Kim
Joo Hyun Park
Juyong Chung
Kyoung Yeul Lee
Sang Min Park
Seung-Ha Oh
Sun O Chang
Taesu Chung
P2860
P2888
P304
P356
10.1007/S00109-014-1128-3
P577
2014-02-15T00:00:00Z