Classes
Publications
- 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
- Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma2013 | 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
- Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease2009 | 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
- B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
- Intestinal failure - surgery management and intestinal transplantation2023 | First Faculty of Medicine, Central Library of Charles University
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