Publications
- The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood2023 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Second Faculty of Medicine, Faculty of Science
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | Second Faculty of Medicine
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes2020 | Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
- Objasnenie príčiny dysplázie genitálu u syna a jeho otca2023 | Second Faculty of Medicine
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