Publikace
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | 1. lékařská fakulta
- Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q412005 | 1. lékařská fakulta
- 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 genes2003 | 1. lékařská fakulta
- Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16p11. 2-and evidence for genetic heterogenity (3)2000 | 1. lékařská fakulta
- Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence fo genetic heterogeneity (1)Publikace bez příslušnosti k fakultě
- Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence for genetic heterogenityPublikace bez příslušnosti k fakultě
- A Primary Transcript Map for the Familial Juvenile Hyperuricemic Nephropathy (FJHN) Critical Region on Chromosome 16p11. 2Publikace bez příslušnosti k fakultě
- Interleukin-37: associations of plasma levels and genetic variants in gout2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment2023 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | 1. lékařská fakulta
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