Showing results (21-30 of 33) with videos related to
Sort By:
Pageof 4
The New England Journal of Medicine|June 17, 2011
Mutations in CYP24A1 and idiopathic infantile hypercalcemiaKarl P Schlingmann, Martin Kaufmann, Stefanie Weber, et al.Journal of the American Society of Nephrology : JASN|August 19, 2005
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemiaKarl P Schlingmann, Martin C Sassen, Stefanie Weber, et al.American Journal of Human Genetics|November 3, 2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual DisabilityKarl P Schlingmann, Sascha Bandulik, Cherry Mammen, et al.Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.Kidney International Reports|July 13, 2026
Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular SyndromeFrancesco Emma, Detlef Böckenhauer, Andrew J Mallett, et al.American Journal of Human Genetics|October 13, 2006
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvementMartin Konrad, Andre Schaller, Dominik Seelow, et al.American Journal of Human Genetics|December 7, 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationJulien H Park, Max Hogrebe, Marianne Grüneberg, et al.Journal of the American Society of Nephrology : JASN|June 7, 2015
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile HypercalcemiaKarl P Schlingmann, Justyna Ruminska, Martin Kaufmann, et al.Journal of Inherited Metabolic Disease|June 10, 2019
Management of bone disease in cystinosis: Statement from an international conferenceKatharina Hohenfellner, Frank Rauch, Gema Ariceta, 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.Pageof 4