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
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene2019 | Second Faculty of Medicine, Central Library of Charles University
- 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
- Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor2017 | Second Faculty of Medicine, Central Library of Charles University
- Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Mathematics and Physics
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis of the disease2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair2014 | Second Faculty of Medicine
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