Publications
- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | Second Faculty of Medicine
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | Second Faculty of Medicine
- Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene2009 | Second Faculty of Medicine
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | Second Faculty of Medicine
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | Second Faculty of Medicine
- Intra-operative evaluation of cochlear implant recipients with GJB2 - related deafness2003 | Second Faculty of Medicine, Central Library of Charles University
- Intra - operative evaluation of cochlear implant recipients with GJB2 related deafness2003 | Second Faculty of Medicine, Central Library of Charles University
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
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