Publications
- Oculopharyngeal muscular dystrophy in the population of the Czech Republic2013 | 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
- Introduction of molecular genetic diagnosis in syndromes with a hearing defect1998 | 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
- 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
- Paediatric nephrology2015 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
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