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FJHN
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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 fo genetic heterogeneity (1)
Publication without faculty affiliation
publication
Familiární juvenilní hyperurikemická nefropatie (FJHN): lokalizace genu na chromozomu 16p11. 2 a důkaz genetické heterogenity onemocnění
Publication without faculty affiliation
publication
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 |
First Faculty of Medicine
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
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
Genetic Disorders Resulting in Hyper- or Hypouricemia
2012 |
First 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
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report
2015 |
First Faculty of Medicine