Showing results (211-220 of 331) with videos related to
Sort By:
Pageof 34
American Journal of Human Genetics|May 3, 2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Fowzan S Alkuraya, Xuyu Cai, Carina Emery, et al.American Journal of Human Genetics|November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsGaneshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.Annals of Neurology|January 21, 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasiaAlissa M D'Gama, Ying Geng, Javier A Couto, et al.Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.American Journal of Human Genetics|October 24, 2003
Protein-truncating mutations in ASPM cause variable reduction in brain sizeJacquelyn Bond, Sheila Scott, Daniel J Hampshire, et al.Nature Neuroscience|January 12, 2021
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencingRachel E Rodin, Yanmei Dou, Minseok Kwon, et al.Brain & Development|September 16, 2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna Poduri, Vida Chitsazzadeh, Stefano D'Arrigo, et al.Nature Genetics|October 5, 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy W Yu, Ganeshwaran H Mochida, David J Tischfield, et al.Biorxiv : the Preprint Server for Biology|March 17, 2025
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disordersZinan Zhou, Lovelace J Luquette, Guanlan Dong, et al.Neurology. Genetics|December 27, 2023
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.Pageof 34