Publications
- 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
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- Early diagnosis of pycnodysostosis in a Czech toddler: a case report2020 | Second Faculty of Medicine
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, 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
- Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic2008 | Second Faculty of Medicine, Third Faculty of Medicine
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
- NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis2024 | Second Faculty of Medicine
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