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GJB2
Publication
Class
Person
Publication
Programmes
publication
Intra-operative evaluation of cochlear implant recipients with GJB2 - related deafness
2003 |
Second Faculty of Medicine, Central Library of Charles University
publication
The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region
2021 |
Second Faculty of Medicine
publication
Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population
2005 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
2006 |
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
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
2009 |
Second Faculty of Medicine
publication
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
2005 |
Second Faculty of Medicine
publication
Autosomal recessive ethnical diseases of Czech Roma
2006 |
Second Faculty of Medicine
publication
Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation
2013 |
Second Faculty of Medicine
publication
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
2004 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Intra - operative evaluation of cochlear implant recipients with GJB2 related deafness
2003 |
Second Faculty of Medicine, Central Library of Charles University
publication
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
2009 |
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
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
MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population - Prevalence, Clinical Impact and the Common Origin
2015 |
Second Faculty of Medicine
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
Pendred syndrome in the Czech Republic
2011 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Two supernumerary marker-chromosomes in a healthy woman - a case report
Publication without faculty affiliation
publication
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant
2020 |
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
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
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