Publications
- Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity2021 | Second Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Axenfeld-Rieger syndrome: more than meets the eye2023 | Second Faculty of Medicine, First Faculty of Medicine
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | Second Faculty of Medicine
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | Second Faculty of Medicine, First Faculty of Medicine
- Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome2021 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
- Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 12021 | Second Faculty of Medicine
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | Second Faculty of Medicine
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