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Human Molecular Genetics|January 16, 2023
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathyTakahiro Hayashi, Naoko Yano, Kengo Kora, et al.Human Molecular Genetics|December 20, 2022
Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IVPaola Pacifico, Giovanna Testa, Rosy Amodeo, et al.Human Molecular Genetics|December 22, 2022
An altered extracellular matrix-integrin interface contributes to Huntington's disease-associated CNS dysfunction in glial and vascular cellsSarah J Hernandez, Ryan G Lim, Tarik Onur, et al.Human Molecular Genetics|June 1, 2022
Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencingYichuan Liu, Hui-Qi Qu, Xiao Chang, et al.Human Molecular Genetics|June 1, 2022
Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutantsJoseph T Ortega, Andrew G McKee, Francis J Roushar, et al.Human Molecular Genetics|June 2, 2022
Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301Jasmine A Fels, Gabriella Casalena, Csaba Konrad, et al.Human Molecular Genetics|June 6, 2022
The critical role of the TB5 domain of fibrillin-1 in endochondral ossificationLaure Delhon, Zakaria Mougin, Jérémie Jonquet, et al.Human Molecular Genetics|June 6, 2022
Altered hydroxymethylome in the substantia nigra of Parkinson's diseaseShishi Min, Qian Xu, Lixia Qin, et al.Human Molecular Genetics|December 2, 2022
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylationMotoko Unoki, Guillaume Velasco, Satomi Kori, et al.Human Molecular Genetics|June 29, 2022
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3Dolores Martínez-Rubio, Ángela Rodríguez-Prieto, Paula Sancho, et al.Pageof 1,195