Classes
Publications
- Blood pressure in children with renal cysts and diabetes syndrome2021 | Second Faculty of Medicine
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome2018 | Second Faculty of Medicine, Central Library of Charles University
- Overgrowth in children and in adults: novel clinical view, novel genes, novel phenotypes2017 | Second Faculty of Medicine
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene2013 | Second Faculty of Medicine
- Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome2012 | Second Faculty of Medicine
- Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive2012 | Second Faculty of Medicine
- Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene2009 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis2024 | Second Faculty of Medicine
- Thirty years of national home parenteral nutrition patient registry2023 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Central Library of Charles University
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