Found: 15
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Pulmonary re-occurrence of post-transplant lymphoproliferative disease with hypogammaglobulinaemia.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis.
- Published in:
- Kidney International, 2013, v. 84, n. 1, p. 130, doi. 10.1038/ki.2013.63
- By:
- Publication type:
- Article
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 875, doi. 10.1038/ng2039
- By:
- Publication type:
- Article
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
- Published in:
- Human Genetics, 2006, v. 119, n. 6, p. 649, doi. 10.1007/s00439-006-0176-3
- By:
- Publication type:
- Article
Nephronophthisis: a pathological and genetic perspective.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 1977, doi. 10.1007/s00467-023-06174-8
- By:
- Publication type:
- Article
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 6, p. 1415, doi. 10.1007/s00467-021-05372-6
- By:
- Publication type:
- Article
A rare case of hyporeninemic hypertension: Answers.
- Published in:
- 2021
- By:
- Publication type:
- Question & Answer
A rare case of hyporeninemic hypertension: Questions.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Ghrelin enhances tubular magnesium absorption in the kidney.
- Published in:
- Frontiers in Physiology, 2024, p. 1, doi. 10.3389/fphys.2024.1363708
- By:
- Publication type:
- Article
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Omental Arteriopathy in Primary Atypical Hemolytic Uremic Syndrome.
- Published in:
- International Journal of Surgical Pathology, 2017, v. 25, n. 6, p. 515, doi. 10.1177/1066896917699703
- By:
- Publication type:
- Article
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000353
- By:
- Publication type:
- Article
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1985, doi. 10.1093/hmg/ddq077
- By:
- Publication type:
- Article
Ten novel mutations found in aniridia.
- Published in:
- Human Mutation, 1998, v. 12, n. 5, p. 304, doi. 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D
- By:
- Publication type:
- Article
Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis.
- Published in:
- Journal of Nephrology (JNonline), 2024, v. 37, n. 1, p. 203, doi. 10.1007/s40620-023-01757-y
- By:
- Publication type:
- Article