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sequence variants
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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis
2016 |
First Faculty of Medicine
publication
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 Gout
2014 |
First Faculty of Medicine, Faculty of Science
publication
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
2012 |
First Faculty of Medicine
publication
Acute kidney injury in two children caused by renal hypouricaemia type 2
2012 |
First Faculty of Medicine
publication
Diagnostic tests for primary renal hypouricemia
2011 |
First Faculty of Medicine
publication
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia
2011 |
First Faculty of Medicine
publication
Serum uric acid levels and sequence variants of methylentetrahydrofolate reductase (MTHFR) gene
Publication without faculty affiliation
publication
Serum uric acid levels and sequence variants of methylentetrahydrofolate reductase gene
Publication without faculty affiliation
publication
Interleukin-37: associations of plasma levels and genetic variants in gout
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment
2023 |
First Faculty of Medicine, Faculty of Mathematics and Physics
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