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Journal of Neurodevelopmental Disorders|May 15, 2022
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history studyCaroline B Buchanan, Jennifer L Stallworth, Aubin E Joy, et al.American Journal of Medical Genetics. Part A|August 29, 2024
Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorderIsabel Haviland, Ralph D Hector, Lindsay C Swanson, et al.Cellular and Molecular Life Sciences : CMLS|November 3, 2023
Clinical and functional consequences of GRIA variants in patients with neurological diseasesWenshu XiangWei, Riley E Perszyk, Nana Liu, et al.Molecular Psychiatry|October 14, 2025
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyJohannes R Lemke, Andrea Eoli, Ilona Krey, et al.Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Automated syndrome diagnosis by three-dimensional facial imagingBenedikt Hallgrímsson, J David Aponte, David C Katz, et al.Medrxiv : the Preprint Server for Health Sciences|March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant ClassificationTobias Brünger, Ilona Krey, Suyeon Kim, et al.Pageof 14