Publications
- 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
- Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method1999 | Second Faculty of Medicine
- Mulibrey Nanism and Wilms Tumor1999 | Second Faculty of Medicine
- Nijmegen Breakage Syndrome (NBS)1999 | Second Faculty of Medicine
- Introduction of molecular genetic diagnosis in syndromes with a hearing defect1998 | 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
- 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
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