Publications
- LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?2018 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Rare variants in known and novel candidate genes predisposing to statin-associated myopathy2016 | First Faculty of Medicine, Central Library of Charles University
- 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
- Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene2014 | First Faculty of Medicine
- Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families2013 | 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
- Germline multigene panel testing of patients with endometrial cancer2023 | First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
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