Publications
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- Pitfalls of X-chromosome inactivation testing in females with Fabry disease2022 | First Faculty of Medicine
- Rare copy number variation in extremely impulsively violent males2019 | First Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | First Faculty of Medicine, Central Library of Charles University
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female2016 | First Faculty of Medicine
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | 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, Central Library of Charles University, Third Faculty of Medicine
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | First Faculty of Medicine, Centre for Knowledge and Technology Transfer
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
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