Classes
Publications
- Blood pressure in children with renal cysts and diabetes syndrome2021 | Second Faculty of Medicine
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis2020 | First Faculty of Medicine, Second Faculty of Medicine
- Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement2019 | First Faculty of Medicine, 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
- McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue2015 | 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
- 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
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