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Nature Methods|May 28, 2025
SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencingHillary Elrick, Carolin M Sauer, Jose Espejo Valle-Inclan, et al.Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.Lancet (London, England)|December 28, 2020
Acute flaccid myelitis: cause, diagnosis, and managementOlwen C Murphy, Kevin Messacar, Leslie Benson, et al.American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.Scientific Reports|September 30, 2024
Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse linesHillary Elrick, Kevin A Peterson, Brandon J Willis, et al.American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.Pageof 15