Publications
- 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
- 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
- The role of genetics in early postnatal care with a focus on VVV2017 | Second 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
- 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
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