Publications
- The role of acid-labile subunit (Als) in aetiology and diagnostic procedures of short stature2020 | Second Faculty of Medicine
- Monogenic diabetes MODY in childhood: a retrospective study of patients diagnosed at the Department of Pediatrics, University Hospital in Pilsen in 2000-20172019 | Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Novel glucokinase gene mutation in the first Macedonian family tested for MODY2017 | Second Faculty of Medicine
- An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia2016 | Second Faculty of Medicine
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review2015 | First Faculty of Medicine, Faculty of Physical Education and Sport, 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
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