Publications
- 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
- Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity2021 | Second 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
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University
- Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications2020 | Second Faculty of Medicine, First Faculty of Medicine
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | Second Faculty of Medicine
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia2020 | Second Faculty of Medicine
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