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Studium
doc. Mgr. Ing. Blanka Stibůrková Ph.D.
Akademický pracovník na 1. lékařská fakulta
83 publikací
Publikace
publication
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia
2018 |
1. lékařská fakulta
publication
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis
2016 |
1. lékařská fakulta
publication
Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease
2015 |
1. lékařská fakulta
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 |
1. lékařská fakulta, Přírodovědecká fakulta
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
1. lékařská fakulta
publication
Changes in Serum Urate and Urate Excretion With Age
2012 |
1. lékařská fakulta
publication
Unusual presentation of Kelley-Seegmiller syndrome
2008 |
1. lékařská fakulta, 3. lékařská fakulta
publication
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 |
1. lékařská fakulta
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 |
1. lékařská fakulta