Publications
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | First Faculty of Medicine, Second Faculty of Medicine
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | Second Faculty of Medicine
- Early diagnosis of pycnodysostosis in a Czech toddler: a case report2020 | Second Faculty of Medicine
- Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families2018 | Second Faculty of Medicine
- Results of expanded newborn screening in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine, Third 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
- NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis2024 | Second Faculty of Medicine
- Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome2023 | Second Faculty of Medicine, Central Library of Charles University
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