Classes
Publications
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | First Faculty of Medicine
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency2011 | First Faculty of Medicine
- Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency2010 | First Faculty of Medicine
- Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP2010 | First Faculty of Medicine
- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | 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
- 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
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | First Faculty of Medicine
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