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Research Square|June 19, 2023
A first-generation genome-wide map of correlated DNA methylation demonstrates highly coordinated and tissue-independent clustering across regulatory regionsAarti Jajoo, Owen Hirschi, Katharina Schulze, et al.Pediatric Neurology|October 2, 2024
A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel TestingNitish Chourasia, Rohan Vaidya, Soham Sengupta, et al.The British Journal of Nutrition|March 27, 2007
Childhood malnutrition is associated with a reduction in the total melanin content of scalp hairColin A McKenzie, Kazumasa Wakamatsu, Neil A Hanchard, et al.Annual Review of Genomics and Human Genetics|April 30, 2014
The genetics of microdeletion and microduplication syndromes: an updateCorey T Watson, Tomas Marques-Bonet, Andrew J Sharp, et al.Epilepsia|August 12, 2018
Return of individual results in epilepsy genomic research: A view from the fieldRuth Ottman, Catharine Freyer, Heather C Mefford, et al.Nature Reviews. Disease Primers|September 5, 2024
Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.Journal of Medical Case Reports|January 15, 2019
The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case reportAngela E Rankine-Mullings, Graham Serjeant, Zachary Ramsay, et al.American Journal of Medical Genetics. Part A|June 19, 2015
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromesKelly L Jones, Ulrike Schwarze, Margaret P Adam, et al.Annual Review of Genomics and Human Genetics|May 16, 2022
Five Priorities of African Genomics Research: The Next FrontierAmbroise Wonkam, Nchangwi S Munung, Collet Dandara, et al.American Journal of Human Genetics|December 19, 2003
Evidence for extensive transmission distortion in the human genomeSebastian Zöllner, Xiaoquan Wen, Neil A Hanchard, et al.Pageof 27