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Human Mutation|June 30, 2020
General population ZBTB18 missense variants influence DNA binding and transcriptional regulationIsabel A Hemming, Steven Blake, Mark Agostino, et al.Cell Reports|October 28, 2020
Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVsHamid Alinejad-Rokny, Julian I T Heng, Alistair R R ForrestJournal of Neurochemistry|January 27, 2022
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and diseaseJulian I-T Heng, Leon Viti, Kye Pugh, et al.Neurogenetics|July 31, 2023
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disabilityNana Li, Hong Kang, Yanna Zou, et al.Human Mutation|May 22, 2019
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortexIsabel A Hemming, Olivier Clément, Ivan E Gladwyn-Ng, et al.Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.Molecular Genetics & Genomic Medicine|January 8, 2019
Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceKaren J Woodward, Julie Stampalia, Hannah Vanyai, et al.Nature|March 19, 2026
Adaptive evolution of gene regulatory networks in mammalian neocortexZhuo Li, Navjot Kaur, Gabriel Santpere, et al.Pageof 1