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Nature Genetics|March 29, 2005
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain sizeJacquelyn Bond, Emma Roberts, Kelly Springell, et al.Science (New York, N.Y.)|October 30, 2025
Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathyGuanlan Dong, Chanthia C Ma, Shulin Mao, et al.Biorxiv : the Preprint Server for Biology|December 11, 2023
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal MutationsZinan Zhou, Junho Kim, August Yue Huang, et al.Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.Cell|November 27, 2012
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiationYawei J Yang, Andrew E Baltus, Rebecca S Mathew, et al.Diabetic Medicine : a Journal of the British Diabetic Association|August 31, 2025
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variantsRussell Donis, Matthew N Wakeling, Nicola Jeffery, et al.Cell|July 1, 2026
Recurrent patterns of TOP1-mediated neuronal genomic damage shared by major neurodegenerative disordersZinan Zhou, Lovelace J Luquette, Guanlan Dong, et al.The Journal of Clinical Endocrinology and Metabolism|July 30, 2024
Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJonna M E Männistö, Jasmin J Hopkins, Thomas I Hewat, et al.Nature Communications|June 10, 2022
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorderElaine T Lim, Yingleong Chan, Pepper Dawes, et al.Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.Pageof 41