Publications
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome2018 | Central Library of Charles University, Second Faculty of Medicine
- Choledochal Cyst with 17q12 Chromosomal Duplication2018 | Second Faculty of Medicine
- Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes2017 | 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
- Liver, kidneys and diabetes: three faces of HNF1B gene deficit2014 | 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
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