Publications
- 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
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint2021 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | 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
- 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
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
Loading network view...
