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Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.Kidney International|July 3, 2014
The 2014International Workshop on Alport SyndromeJeffrey H Miner, Colin Baigent, Frances Flinter, et al.Scientific Reports|March 5, 2025
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the ChineseTina Si Ting Lim, Chee Teck Koh, Judith Savige, et al.Plos One|March 24, 2017
A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general populationKonstantinos Voskarides, Charalambos Stefanou, Myrtani Pieri, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2016
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOliver Gross, Clifford E Kashtan, Michelle N Rheault, et al.Human Mutation|March 24, 2009
Planning the human variome project: the Spain reportJim Kaput, Richard G H Cotton, Lauren Hardman, et al.Pageof 2