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Science (New York, N.Y.)|April 29, 2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism NetworkMichael J McConnell, John V Moran, Alexej Abyzov, et al.Human Molecular Genetics|June 14, 2021
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndromeRoar Fjær, Katarzyna Marciniak, Olav Sundnes, et al.Pediatric Neurology|March 12, 2019
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber SyndromeAlyssa M Day, Charles E McCulloch, Adrienne M Hammill, et al.Genome Research|March 9, 2019
Long-read single-molecule maps of the functional methylomeHila Sharim, Assaf Grunwald, Tslil Gabrieli, et al.JAMIA Open|January 11, 2021
The case for open science: rare diseasesYaffa R Rubinstein, Peter N Robinson, William A Gahl, et al.Nature Communications|January 8, 2025
Small variant benchmark from a complete assembly of X and Y chromosomesJustin Wagner, Nathan D Olson, Jennifer McDaniel, et al.Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.Genome Research|October 4, 2003
Development of human protein reference database as an initial platform for approaching systems biology in humansSuraj Peri, J Daniel Navarro, Ramars Amanchy, et al.Journal of Food Protection|March 8, 2022
Use of Whole Genome Sequencing by the Federal Interagency Collaboration for Genomics for Food and Feed Safety in the United StatesEric L Stevens, Heather A Carleton, Jennifer Beal, et al.Science Advances|October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmissionHui Guo, Ying Li, Lu Shen, et al.Pageof 9