Publications
- Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome2023 | Second Faculty of Medicine, Central Library of Charles University
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | Second Faculty of Medicine
- Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review2023 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem2019 | Second Faculty of Medicine
- Duplikace genu PMP22 u pacientky se syndromem Potocki-Lupski2018 | Second Faculty of Medicine
- Shprintzen-Goldbergův syndrom2018 | Second Faculty of Medicine
- Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia2011 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia2011 | Second Faculty of Medicine
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
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