Publikace
- URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia2018 | 1. lékařská fakulta
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, 3. lékařská fakulta, Přírodovědecká fakulta
- 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
- 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
- Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout2023 | 1. lékařská fakulta
- Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome2023 | 1. lékařská fakulta
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