Publications
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria2023 | First Faculty of Medicine, 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
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- Genetic causes of malformations of cortical development - novel insights into pathogenesis and diagnostic approach2022 | Second Faculty of Medicine
- 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
- 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
- Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA2012 | Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- 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
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