Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China
about
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-AnalysisDifferences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and miceKCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjectsProbing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics SimulationsMutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, ChinaGenetic counseling for patients with nonsyndromic hearing impairment directed by gene analysisGenetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q26774741-CCB50D8D-7EA8-4578-95F2-9F7AD5AD1C0FQ28533618-5C151A16-698B-4C69-B928-45F78CFB3963Q35395518-F8073097-FD44-44E1-9ED3-FC56A64968F3Q35672762-4A3ADA69-F2EF-4A35-8080-92989C52336CQ35739700-91191317-F4D9-47F5-8327-AB20DDB441A8Q36624115-7083C82F-0FC6-4941-95D5-D834C5F3D1BFQ36988213-B8EC2815-DC53-4E28-B6B2-D22E014C5BEDQ37217010-C614E89F-95EF-419B-93D3-08F6A83CEB65Q37664461-E86E2C6B-8F4A-409D-9511-470349F11E89Q41091624-0010F8A1-8AB4-4C03-9635-EEFE1DE7B29BQ47811506-C2D2F996-E21C-4882-B180-82B6602D366DQ48275976-E7D9F9B4-3B7F-447F-A367-8728E4110E32Q50352916-BCF3A827-90A6-4B0E-AD8E-BB4066C509E9Q50353156-8C8FF6A7-4AA7-460E-997C-160F683BB47DQ50425822-DB64118A-5AA2-4F11-AB47-AF713F3A576FQ55189646-93B4E739-CB62-4130-8703-CABC79E94C7AQ57455558-51F26F14-FC1E-49F6-BA8A-DA3125E78294
P2860
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China
description
2012 nî lūn-bûn
@nan
2012 թուականին հրատարակուած գիտական յօդուած
@hyw
2012 թվականին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@ast
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@en
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@nl
type
label
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@ast
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@en
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@nl
prefLabel
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@ast
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@en
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@nl
P2093
P2860
P1433
P1476
Molecular epidemiology and fun ...... d vestibular aqueduct in China
@en
P2093
David Z Z He
Guojian Wang
Guozheng Zhang
Mingyu Han
Shiming Yang
Weiwei Guo
Yongyi Yuan
P2860
P304
P356
10.1371/JOURNAL.PONE.0049984
P407
P50
P577
2012-01-01T00:00:00Z