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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.Cell Reports. Medicine|June 6, 2025
Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkersEric J Jaehnig, Aranzazu Fernandez-Martinez, Tanmayi D Vashist, et al.Brain : a Journal of Neurology|December 4, 2019
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disabilityNicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndromeCongcong Ma, Na Chen, Angad Jolly, 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.Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, 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 117