Publikace
- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | 2. lékařská fakulta
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | 2. lékařská fakulta
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | 2. lékařská fakulta
- Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene2009 | 2. lékařská fakulta
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | 2. lékařská fakulta
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | 2. lékařská fakulta
- Peroperační monitorace kochleární implantace u pacientů s kongenitální hluchotou podmíněnou mutací GJB2 genu2003 | 2. lékařská fakulta, Ústřední knihovna
- Intra - operative evaluation of cochlear implant recipients with GJB2 related deafness2003 | 2. lékařská fakulta, Ústřední knihovna
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | 2. lékařská fakulta
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