Publications
- Pregnancy and delivery in a patient with pure 46,XY karyotype. Summary of actual knowledge about XY women2013 | Second Faculty of Medicine
- Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report2011 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- 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
- Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia2011 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Lynch syndrome- HNPCC- information of DNA analysisPublication 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
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