Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Brain : a Journal of Neurology|October 21, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathiesSilvia Masnada, Ulrike B S Hedrich, Elena Gardella, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Pageof 7