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Annals of Medicine|June 7, 2006
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patientsHeidi Fodstad, Saïd Bendahhou, Jean-Sébastien Rougier, et al.Journal of the American Society of Nephrology : JASN|July 16, 2017
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeMahdi Salih, Ivan Gautschi, Miguel X van Bemmelen, et al.Hypertension (Dallas, Tex. : 1979)|March 21, 2007
CYP3A5 and ABCB1 genes influence blood pressure and response to treatment, and their effect is modified by saltChin B Eap, Murielle Bochud, Robert C Elston, et al.Clinical Endocrinology|June 13, 2008
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channelFelix G Riepe, Miguel X P van Bemmelen, Francois Cachat, et al.Biochemical and Biophysical Research Communications|June 3, 2008
Direct visualization of the trimeric structure of the ASIC1a channel, using AFM imagingStewart M Carnally, Harveer S Dev, Andrew P Stewart, et al.Journal of the Neurological Sciences|May 20, 2014
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1ANuria García Segarra, Ivan Gautschi, Laureane Mittaz-Crettol, et al.BMC Medical Genetics|January 22, 2005
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertensionTuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, et al.Journal of the American Society of Nephrology : JASN|November 2, 2016
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the NephronCamille Ansermet, Matthias B Moor, Gabriel Centeno, et al.Pageof 4