Publications
- 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
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | Second Faculty of Medicine
- Pilot newborn screening project for cystic fibrosis in the Czech Republic: Defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease2009 | Second Faculty of Medicine, Third Faculty of Medicine
- An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population2009 | Second Faculty of Medicine
- Correlation between genetic and geographic structure in Europe2008 | Second Faculty of Medicine
- Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study2007 | 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
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