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NSHL
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publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
Second Faculty of Medicine
publication
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients
2016 |
Second Faculty of Medicine
publication
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
2012 |
Central Library of Charles University, Second Faculty of Medicine
publication
DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population
2012 |
Second Faculty of Medicine
publication
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)
2010 |
Central Library of Charles University, Second Faculty of Medicine