Publications
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | First Faculty of Medicine, Second Faculty of Medicine
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | First Faculty of Medicine
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Early isolated V-lesion may not truly represent rejection of the kidney allograft2018 | First Faculty of Medicine
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | First Faculty of Medicine, Second Faculty of Medicine
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First 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
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | First Faculty of Medicine, Third 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
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