Showing results (21-30 of 27) with videos related to
Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Cell Reports|June 9, 2021
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMelissa J MacPherson, Sarah L Erickson, Drayden Kopp, et al.Human Molecular Genetics|September 6, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyriaAthina Ververi, Sara Zagaglia, Lara Menzies, et al.American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, et al.Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyAdam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.Pageof 3