Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)-Reference-Cited by-同舟云学术

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

Published:2010-06-17 Issue:4 Volume:74 Page:299-307
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:

Author:

Pourová Radka,Janoušek Petr,Jurovčík Michal,Dvořáková Marcela,Malíková Marcela,Rašková Dagmar,Bendová Olga,Leonardi Emanuela,Murgia Alessandra,Kabelka Zdenek,Astl Jaromír,Seeman Pavel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.2010.00581.x/fullpdf

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4. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations;Banghova;Eur J Pediatr,2008

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1. Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies;International Journal of Molecular Sciences;2022-12-06

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3. Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome;Balkan Medical Journal;2021-07-08

4. Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China;Journal of International Medical Research;2021-04

5. Genetic Epidemiology of Hearing Loss in the 22 Arab Countries: A Systematic Review;Otology & Neurotology;2020-02