Publications
- Strategy for diagnosis, therapy and follow-up of patiens with CNS haemangioblastoma from the perspective of a neurosurgeon2013 | Second Faculty of Medicine
- Paraganglioma in a 13-year-old girl: A novel SDHB gene mutation in the family?2010 | Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine
- Mutations involved in colorectal carcinoma development (diagnosis, prevention)2001 | First Faculty of Medicine
- Fenotyp pacientů s mutacemi genu GTP cyklohydrolásy 1 spojenými s L-dopa responsivní dystonií DYT5 (Segawa) (1)Publication without faculty affiliation
- ROR2 gene mutation of autosomal recessive Robinow-syndromePublication without faculty affiliation
- Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract2023 | First Faculty of Medicine, Second Faculty of Medicine
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | Second Faculty of Medicine
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | Second Faculty of Medicine
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku2023 | Second Faculty of Medicine
- Objasnenie príčiny dysplázie genitálu u syna a jeho otca2023 | Second Faculty of Medicine
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