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Nephron. Clinical Practice|May 16, 2012
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patientsBugsu Ovunc, Shazia Ashraf, Virginia Vega-Warner, et al.
Children (Basel, Switzerland)|November 10, 2020
A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential DiagnosisCristina Bertulli, Marguerite Hureaux, Chiara De Mutiis, et al.
Clinical Journal of the American Society of Nephrology : CJASN|May 16, 2008
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunctionDetlef Bockenhauer, Arend Bokenkamp, William van't Hoff, et al.
BMC Nephrology|July 12, 2017
Fainting Fanconi syndrome clarified by proxy: a case reportStephen Benedict Walsh, Robert Unwin, Robert Kleta, et al.
Pediatric Nephrology (Berlin, Germany)|May 2, 2026
Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?Samia Zerrouki, Gonenc Soyalp, Lucie Taillandier, et al.
Nephron. Physiology|October 10, 2009
Vasopressin type 2 receptor V88M mutation: molecular basis of partial and complete nephrogenic diabetes insipidusDetlef Bockenhauer, Eric Carpentier, Driss Rochdi, et al.
Annals of Saudi Medicine|January 14, 2014
Steroid-resistant nephrotic syndrome: impact of genetic testingJameela A Kari, Sherif M El-Desoky, Mamdooh Gari, et al.
Clinical Kidney Journal|June 13, 2015
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiologyDaniel G Bichet, Abdulah El Tarazi, Jessica Matar, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 16, 2023
Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptanRebecca Jane Moon, Maisara Soliman, Lieke Hoogenboom, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia|November 26, 2023
[Hyponatremia and Electrolyte Disorders in Cancer Patients]Giulia Florio, Anna Iervolino, Mariadelina Simeoni, et al.
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