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The Journal of Clinical Investigation|October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Shazia Ashraf, Weizhen Tan, et al.Science Advances|February 1, 2021
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and miceAmar J Majmundar, Florian Buerger, Thomas A Forbes, et al.American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.Kidney International|February 19, 2019
Monogenic causes of chronic kidney disease in adultsDervla M Connaughton, Claire Kennedy, Shirlee Shril, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, et al.Clinical Journal of the American Society of Nephrology : CJASN|November 12, 2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic SyndromeJillian K Warejko, Weizhen Tan, Ankana Daga, et al.Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.Pageof 5