Publications
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | Second Faculty of Medicine
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients2011 | 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
- Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method1999 | Second Faculty of Medicine
- Nijmegen Breakage Syndrome (NBS)1999 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | 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
- Molecular Analysis of Chromosome 21 in a Patient With a Phenotype of Down Syndrome and Apparently Normal Karyotype1996 | Second Faculty of Medicine
Loading network view...