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Mgr. Jana Mašínová Ph.D.
External person at First Faculty of Medicine
7 publications
Publications
publication
Circulating microRNA alternations in primary hyperuricemia and gout
2021 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout
2021 |
First Faculty of Medicine
publication
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
2021 |
First Faculty of Medicine
publication
Evaluation of the Influence of Genetic Variants ofSLC2A9(GLUT9) andSLC22A12(URAT1) on the Development of Hyperuricemia and Gout
2020 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Central Library of Charles University
publication
Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout
2019 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
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