Found: 13
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A novel hepatocyte nuclear factor-1β (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.
- Published in:
- Diabetologia, 2002, v. 45, n. 1, p. 153
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- Publication type:
- Article
Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 2, p. 224, doi. 10.1111/cge.12960
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- Publication type:
- Article
Localisation of the gene responsible for Fechtner syndrome in a region <600 Kb on 22q11–q13.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 895, doi. 10.1038/sj.ejhg.5200533
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- Publication type:
- Article
Transcatheter treatment of hepatocellular carcinoma with Doxorubicin-loaded DC Bead (DEBDOX): technical recommendations.
- Published in:
- 2012
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- Publication type:
- journal article
A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient.
- Published in:
- European Journal of Clinical Investigation, 2010, v. 40, n. 3, p. 281, doi. 10.1111/j.1365-2362.2010.02256.x
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- Publication type:
- Article
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
- Published in:
- 2009
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- Publication type:
- Journal Article
Association of the macrophage migration inhibitory factor -173*C allele with childhood nephrotic syndrome.
- Published in:
- 2008
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- Publication type:
- Journal Article
Literature Abstracts.
- Published in:
- 2001
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- Publication type:
- Abstract
Cell-specific regulation of α1(III) and α2(V) collagen by TGF-β1 in tubulointerstitial cell models.
- Published in:
- Nephrology Dialysis Transplantation, 1998, v. 13, n. 3, p. 573, doi. 10.1093/ndt/13.3.573
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- Publication type:
- Article
Effects of peritoneal effluents on mesothelial cells m culture: cell proliferation and extracellular matrix regulation.
- Published in:
- Nephrology Dialysis Transplantation, 1996, v. 11, n. 9, p. 1803, doi. 10.1093/oxfordjournals.ndt.a027672
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- Publication type:
- Article
Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association.
- Published in:
- Kidney International, 2006, v. 70, n. 7, p. 1342, doi. 10.1038/sj.ki.5001768
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- Publication type:
- Article
Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases.
- Published in:
- Kidney International, 2006, v. 70, n. 7, p. 1332, doi. 10.1038/sj.ki.5001767
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- Publication type:
- Article
A novel nonsense variation in the albumin gene (c.1309 A>T) causing analbuminaemia.
- Published in:
- British Journal of Biomedical Science, 2021, v. 78, n. 3, p. 154, doi. 10.1080/09674845.2020.1819632
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- Publication type:
- Article