Publications
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | Second Faculty of Medicine
- Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome2013 | Second Faculty of Medicine
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients2011 | First Faculty of Medicine, Second Faculty of Medicine
- Li-Fraumeni Syndrome2003 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers1999 | Second Faculty of Medicine
- Nijmegen Breakage Syndrome (NBS)1999 | Second Faculty of Medicine
- Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger1998 | Second Faculty of Medicine
- Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome1998 | Second Faculty of Medicine
- DNA diagnostics of Friedrich's ataxia1997 | Second Faculty of Medicine
- The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q211997 | Second Faculty of Medicine
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