Publications
- Fetal alcohol syndrome2013 | 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
- Hypocretin deficiency in Prader-Willi syndrome2005 | 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
- Detection of Deletions and Uniparental Disomies in prade-Willi and Angelman Syndromes - Methodical and Interpretational Aspects2000 | Second Faculty of Medicine, Central Library of Charles University
- A dissecting aortic aneurysm in a female patient with Turner syndrome2000 | Second Faculty of Medicine
- Heretidary predisposition to cance: the Li-Fraumeni syndrome as an example2000 | Second Faculty of Medicine
- Mutation Analysis of COL4A5 and COL4A3 Genes in Alport´s Syndrome1999 | Second Faculty of Medicine, Central Library of Charles University
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