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Brain : a Journal of Neurology|December 20, 2019
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegenerationChristina R Fagerberg, Adrian Taylor, Felix Distelmaier, et al.
Biochemistry and Biophysics Reports|April 22, 2026
APLNR reduction in kidney-muscle crosstalk in renal model recovered by exercise and STAT3 inhibitionGabriel Pereira, Thabata Caroline de Oliveira Santos, Sofía Tomaselli Arioni, et al.
American Journal of Human Genetics|September 13, 2016
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodLaura S Kremer, Katharina Danhauser, Diran Herebian, et al.
Cell|January 2, 2018
Selenium Utilization by GPX4 Is Required to Prevent Hydroperoxide-Induced FerroptosisIrina Ingold, Carsten Berndt, Sabine Schmitt, et al.
Journal of the American Chemical Society|September 9, 2023
Mapping the Initial Stages of a Protective Pathway that Enhances Catalytic Turnover by a Lytic Polysaccharide MonooxygenaseJingming Zhao, Ying Zhuo, Daniel E Diaz, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Cognitive Science|January 10, 2023
Beyond Single-Mindedness: A Figure-Ground Reversal for the Cognitive SciencesMark Dingemanse, Andreas Liesenfeld, Marlou Rasenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
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