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Nature|October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplicationsMartin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.Hemasphere|April 25, 2023
Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified CriteriaMareike Tometten, Martin Kirschner, Robert Meyer, et al.Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.Brain : a Journal of Neurology|August 12, 2020
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuolesCarola Hedberg-Oldfors, Robert Meyer, Kay Nolte, et al.Nature|May 24, 2023
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagyHector Foronda, Yangxue Fu, Adriana Covarrubias-Pinto, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaMaria Asif, Arwa Ishaq A Khayyat, Salem Alawbathani, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.The Journal of Clinical Investigation|April 15, 2010
The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of miceFrançoise Leviel, Christian A Hübner, Pascal Houillier, et al.Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.Pageof 15