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Cell Genomics|July 17, 2024
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder riskTaehwan Shin, Janet H T Song, Michael Kosicki, et al.Diabetes|February 27, 2026
Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune DiabetesGeorgia Bonfield, James Russ-Silsby, Suraj Ramchand, et al.Biorxiv : the Preprint Server for Biology|March 17, 2025
Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathyGuanlan Dong, Chanthia C Ma, Shulin Mao, et al.Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.Schizophrenia Research|September 27, 2025
The burden of early onset psychosis: Diagnostic complexity, high comorbidity, and poor functioning in patients and their relativesJosephine Mollon, Nuria Lanzagorta, Samuel R Mathias, et al.Nature Genetics|September 26, 2022
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elementsLovelace J Luquette, Michael B Miller, Zinan Zhou, et al.Nature Communications|October 14, 2017
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceKashyap A Patel, Jarno Kettunen, Markku Laakso, et al.Brain Communications|April 3, 2025
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variantsAlissa M D'Gama, Harold Westley Phillips, Yilan Wang, et al.Elife|December 22, 2016
A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memoryRebecca S Mathew, Antonis Tatarakis, Andrii Rudenko, et al.Pageof 41