Publications
- An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia2016 | Second Faculty of Medicine
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | Third Faculty of Medicine, First Faculty of Medicine, Second Faculty of Medicine
- De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | Second Faculty of Medicine
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | Second Faculty of Medicine
- Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes2022 | Second Faculty of Medicine, Faculty of Mathematics and Physics
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | Second Faculty of Medicine, Faculty of Mathematics and Physics
- Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies2022 | Second Faculty of Medicine
- Familial short stature - a novel phenotype of growth plate collagenopathies2021 | Second Faculty of Medicine
- A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes2021 | Second Faculty of Medicine
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