Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-AnalysisNovel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Genetic characteristics of the couple with non-syndromic sensorineural hearing loss and fertility guidance.Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution meltingExtremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueductRecurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.A case of palmoplantar lichen planus in a patient with congenital sensorineural deafness.Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
P2860
Q26774741-722EDD27-C671-4488-B3D3-5AA2FC815732Q30367238-BD97209C-01B4-4402-A47E-AABA30DBC268Q30390935-6EF4C5EC-9DA0-40FA-829A-93924953D736Q35069947-BBF7ED9A-B9EC-467E-95C9-5F922ECEA39CQ35477577-B735A794-3BDB-4BF1-94E4-75AC72C5BCAAQ50094681-C7CC7788-B610-4C93-BBE6-B678BC462EB5Q50357721-338C12AF-BB22-4D75-A51B-69394668C6ADQ50429264-BE0BCE25-C490-436A-ACB9-49B966F486B3Q55340300-6D223296-F61D-4390-AE4B-7EF1355C8EC2
P2860
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Spectrum and frequency of SLC2 ...... ged Vestibular Aqueduct (EVA).
@en
Spectrum and frequency of SLC2 ...... t Enlarged Vestibular Aqueduct
@nl
type
label
Spectrum and frequency of SLC2 ...... ged Vestibular Aqueduct (EVA).
@en
Spectrum and frequency of SLC2 ...... t Enlarged Vestibular Aqueduct
@nl
prefLabel
Spectrum and frequency of SLC2 ...... ged Vestibular Aqueduct (EVA).
@en
Spectrum and frequency of SLC2 ...... t Enlarged Vestibular Aqueduct
@nl
P2093
P1476
Spectrum and frequency of SLC2 ...... ged Vestibular Aqueduct (EVA).
@en
P2093
Alessandra Murgia
Dagmar Rasková
Jaromír Astl
Marcela Dvoráková
Marcela Malíková
Michal Jurovcík
Olga Bendová
Pavel Seeman
Petr Janousek
Radka Pourová
P2860
P304
P356
10.1111/J.1469-1809.2010.00581.X
P407
P577
2010-07-01T00:00:00Z