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
- 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
- Campomelic Dysplasia2001 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Kampomelic dysplasia2001 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Mutation Analysis of COL4A5 and COL4A3 Genes in Alport´s Syndrome1999 | Second Faculty of Medicine, Central Library of Charles University
- 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
- The Novel Contiguous Gene Syndrome of Myotubular Myopathy (MTM1), Male Hypogenitalism and Delection in Xq28: Report of the First Familial Case1999 | Second Faculty of Medicine
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