Publications
- 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
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | First Faculty of Medicine, Second Faculty of Medicine
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | First Faculty of Medicine, Second 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 diagnostics identifies risks for graft dysfunction despite borderline histologic changes2015 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | First Faculty of Medicine
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | First Faculty of Medicine
- DNA Damage Response and Inflammatory Signaling Limit the MLL-ENL-Induced Leukemogenesis In Vivo2012 | First Faculty of Medicine
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | First Faculty of Medicine
- Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency2008 | First Faculty of Medicine
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