Publications
- 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
- 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
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
- DNA diagnostics of Friedrich's ataxia1997 | Second Faculty of Medicine
- A method for detection of germinal mutations in the p53 tumor suppressor gene1996 | Second Faculty of Medicine
- Fragile X syndrome in incestuous families1996 | Second Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome2020 | Second Faculty of Medicine
- The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?2016 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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