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Search for publications relevant for "non-syndromic hearing loss"
non-syndromic hearing loss
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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
First report for SLC26A4 gene for czech patients with non-syndromic hearing loss
Publication without faculty affiliation
publication
Molecular genetic testing in patients with autosomal recessive non syndromic hearing loss and deafness
2003 |
Second Faculty of Medicine
publication
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome
2021 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
2012 |
Second Faculty of Medicine, Central Library of Charles University
publication
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review
2022 |
First 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
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates
2007 |
Second Faculty of Medicine
publication
Pendred syndrome in the Czech Republic
2011 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)
2010 |
Second Faculty of Medicine, Central Library of Charles University
publication
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
2013 |
Second Faculty of Medicine
publication
Examination ofthe Gene for Connexin 26 in Czech Patients with Congenital Autosomal Recessive Non-SyndromicHearing Loss
2002 |
Second Faculty of Medicine