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doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
First Faculty of Medicine
publication
Unusual presentation of Kelley-Seegmiller syndrome
2008 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 |
First Faculty of Medicine
publication
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes
2003 |
First Faculty of Medicine
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16p11. 2-and evidence for genetic heterogenity (3)
2000 |
First Faculty of Medicine
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence fo genetic heterogeneity (1)
Publication without faculty affiliation
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence for genetic heterogenity
Publication without faculty affiliation
publication
A Primary Transcript Map for the Familial Juvenile Hyperuricemic Nephropathy (FJHN) Critical Region on Chromosome 16p11. 2
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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