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Journal of the American Society of Nephrology : JASN|August 31, 2013
LMX1B is essential for the maintenance of differentiated podocytes in adult kidneysTillmann Burghardt, Jürgen Kastner, Hani Suleiman, et al.Nature Genetics|August 3, 2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert Kleta, Elisa Romeo, Zorica Ristic, et al.Nature Genetics|February 19, 2013
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertensionFelix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, et al.The New England Journal of Medicine|May 8, 2009
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsDetlef Bockenhauer, Sally Feather, Horia C Stanescu, et al.Journal of the American Society of Nephrology : JASN|April 3, 2021
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessKarl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, et al.The New England Journal of Medicine|January 10, 2014
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndromeEnriko D Klootwijk, Markus Reichold, Amanda Helip-Wooley, et al.Journal of the American Society of Nephrology : JASN|February 12, 2022
A Founder Mutation in <i>EHD1</i> Presents with Tubular Proteinuria and DeafnessNaomi Issler, Sara Afonso, Irith Weissman, et al.Journal of the American Society of Nephrology : JASN|April 15, 2018
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney FailureMarkus Reichold, Enriko D Klootwijk, Joerg Reinders, et al.Pageof 7