Publications
- 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
- Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study2007 | Second Faculty of Medicine
- NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis2024 | Second Faculty of Medicine
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | First Faculty of Medicine, 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
- 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
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | Second Faculty of Medicine
- Objasnenie príčiny dysplázie genitálu u syna a jeho otca2023 | Second Faculty of Medicine
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
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