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
- A mutation in the c-Fos gene associated with congenital generalized lipodystrophy2013 | Second Faculty of Medicine
- Hypocretin deficiency in Prader-Willi syndrome2005 | First Faculty of Medicine, Second Faculty of Medicine
- 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
- Introduction of molecular genetic diagnosis in syndromes with a hearing defect1998 | Second Faculty of Medicine
- Twenty five years of experience with prenatal genetic diagnosis1997 | Second Faculty of Medicine, Central Library of Charles University
- 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
- A method for detection of germinal mutations in the p53 tumor suppressor gene1996 | Second Faculty of Medicine
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