Publications
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | First Faculty of Medicine, Second Faculty of Medicine
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | First Faculty of Medicine, Third Faculty of Medicine
- Early isolated V-lesion may not truly represent rejection of the kidney allograft2018 | First Faculty of Medicine
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | First Faculty of Medicine
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | First Faculty of Medicine
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | First Faculty of Medicine
- Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes2015 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent2015 | First Faculty of Medicine, Second Faculty of Medicine
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | First Faculty of Medicine
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy2008 | First Faculty of Medicine
Loading network view...
