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
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | 2. lékařská fakulta
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | 2. lékařská fakulta
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | 2. lékařská fakulta, Ústřední knihovna
- Kongenitální myastenie jako příčina respiračního selhání u dvou kojenců a batolete - kazuistiky2012 | 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
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | 2. lékařská fakulta
- GDAP1 mutations in Czech families with early-onset CMT2007 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | 2. lékařská fakulta
Loading network view...