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Lancet (London, England)|March 16, 2024
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohortKatie Wong, David Pitcher, Fiona Braddon, et al.
Human Molecular Genetics|June 18, 2015
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effectsFadil M Hannan, Sarah A Howles, Angela Rogers, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 20, 2019
Identifying Important Outcomes for Young People With CKD and Their Caregivers: A Nominal Group Technique StudyCamilla S Hanson, Talia Gutman, Jonathan C Craig, et al.
Kidney International Reports|July 31, 2024
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases CohortKatie Wong, David Pitcher, Fiona Braddon, et al.
The New England Journal of Medicine|January 10, 2014
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndromeEnriko D Klootwijk, Markus Reichold, Amanda Helip-Wooley, et al.
Kidney International|July 7, 2020
Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in Nephrology-Children and Adolescents (SONG-KIDS) consensus workshopsCamilla S Hanson, Jonathan C Craig, Charlotte Logeman, et al.
Nature Genetics|June 25, 2013
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Sylvia Hoff, Jan Halbritter, Daniel Epting, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 7, 2016
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohortMarcin Zaniew, Arend Bökenkamp, Marcin Kolbuc, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 6, 2026
The European distal renal tubular acidosis registry: a five-year analysisMarta Giaccari, Faidra Veligratli, Wesley Hayes, et al.
Kidney International|May 16, 2020
Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus ConferenceAndrew S Levey, Kai-Uwe Eckardt, Nijsje M Dorman, et al.
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