Publications
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients2013 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Strategy for diagnosis, therapy and follow-up of patiens with CNS haemangioblastoma from the perspective of a neurosurgeon2013 | Second Faculty of Medicine
- Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas2011 | Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Familial incidence of sporadic colorectal carcinoma2001 | First Faculty of Medicine
- Sporadic tumours colorectal carcinogenesis2000 | First Faculty of Medicine
- 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
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