Publikace
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman2013 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, Přírodovědecká fakulta
- Okulofaryngeální muskulární dystrofie v populaci České republiky2013 | 2. lékařská fakulta
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 2. lékařská fakulta
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | 2. lékařská fakulta
- Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy2013 | 2. léka řská fakulta
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | 2. lékařská fakulta
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 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
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | 2. lékařská fakulta
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | 2. lékařská fakulta
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