Publikace
- 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
- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | 2. lékařská fakulta
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | 2. lékařská fakulta, Ústřední knihovna
- 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
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | 2. lékařská fakulta
- Kongenitální myastenický syndrom (CMS)2007 | 2. lékařská fakulta
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | 2. lékařská fakulta
- 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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