Showing results (61-70 of 95) with videos related to

Sort By:
Pageof 10
Epilepsia|December 6, 2020
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disabilityAmy L Schneider, Candace T Myers, Alison M Muir, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2026
MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturationGerarda Cappuccio, Guantong Qi, Xuan Qin, et al.
American Journal of Human Genetics|December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformationBrooke Sadler, Jackson Wilborn, Lilian Antunes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
HGG Advances|August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome functionGiovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, 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.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Pageof 10