Publications
- Campomelic Dysplasia2001 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Kampomelic dysplasia2001 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- A dissecting aortic aneurysm in a female patient with Turner syndrome2000 | Second Faculty of Medicine
- The Novel Contiguous Gene Syndrome of Myotubular Myopathy (MTM1), Male Hypogenitalism and Delection in Xq28: Report of the First Familial Case1999 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
- X-linked Microcephaly, Microphthalmia, Microcornea, Congenital Catarct, Hypogenitalism, Mental Deficiency Growth Retardation, Spasticity: Possible New Syndrome1996 | 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
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