Publications
- 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
- 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
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome2015 | Second Faculty of Medicine
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects2015 | Second Faculty of Medicine
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | Second Faculty of Medicine
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