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HGG Advances|May 1, 2023
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.BMC Genomics|April 19, 2015
Assessing structural variation in a personal genome-towards a human reference diploid genomeAdam C English, William J Salerno, Oliver A Hampton, et al.The Journal of Clinical Investigation|September 1, 2020
Human NK cell deficiency as a result of biallelic mutations in MCM10Emily M Mace, Silke Paust, Matilde I Conte, et al.Genome Biology|September 16, 2011
The functional spectrum of low-frequency coding variationGabor T Marth, Fuli Yu, Amit R Indap, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.Science (New York, N.Y.)|July 30, 2011
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1Nishant Agrawal, Mitchell J Frederick, Curtis R Pickering, et al.Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.Genome Biology|January 23, 2003
Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequenceSusan E Celniker, David A Wheeler, Brent Kronmiller, et al.BMC Microbiology|November 8, 2007
Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureusSarah K Highlander, Kristina G Hultén, Xiang Qin, et al.JAMA|October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencingYaping Yang, Donna M Muzny, Fan Xia, et al.Pageof 65