Publications
- 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
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | First Faculty of Medicine
- 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
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma2023 | First Faculty of Medicine, Central Library of Charles University, Faculty of Science
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