External academic staff at First Faculty of Medicine, Faculty of Science
Publications
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
- Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort2019 | Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Faculty of Mathematics and Physics
- Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia2019 | Faculty of Science, First Faculty of Medicine
- Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 22016 | Faculty of Science, First Faculty of Medicine
- Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout2014 | Faculty of Science, First Faculty of Medicine
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