Publications
- A new look at HNF1A-MODES: The role of functional studies in interpreting the significance of newly identified variants in the HNF1A gene2021 | Second Faculty of Medicine
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | Second Faculty of Medicine
- Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study2020 | Second Faculty of Medicine
- Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial2019 | Second Faculty of Medicine
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
- Human NR5A1/SF-1 Mutations Show Decreased Activity on BDNF (Brain-Derived Neurotrophic Factor), an Important Regulator of Energy Balance: Testing Impact of Novel SF-1 Mutations Beyond Steroidogenesis2014 | Second Faculty of Medicine
- Is genetic testing in children with growth hormone deficiency clinically justified?2013 | Second Faculty of Medicine
- Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone2012 | Second Faculty of Medicine, Third Faculty of Medicine
- Regulation of energy balance and eating behaviour2023 | Second Faculty of Medicine, Third Faculty of Medicine
- Current pharmacotherapy options in pediatric obesity2023 | Second Faculty of Medicine, Third Faculty of Medicine
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