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The Journal of Physiology|August 6, 2024
Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasiaClara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, et al.Elife|January 23, 2018
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing lossMeritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo-Cuesta, et al.Frontiers in Physiology|June 25, 2019
Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and HumansEmilia Boiadjieva Knöpfel, Clara Vilches, Simone M R Camargo, et al.Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.Pageof 7