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Science (New York, N.Y.)|July 2, 2021
Embryo-scale, single-cell spatial transcriptomicsSanjay R Srivatsan, Mary C Regier, Eliza Barkan, et al.Cold Spring Harbor Molecular Case Studies|December 1, 2016
Genome sequencing in a case of Niemann-Pick type CMax Dougherty, John Lazar, Jason C Klein, et al.Science (New York, N.Y.)|March 12, 2010
Analysis of genetic inheritance in a family quartet by whole-genome sequencingJared C Roach, Gustavo Glusman, Arian F A Smit, et al.Journal of Thrombosis and Haemostasis : JTH|June 30, 2022
Results of genetic analysis of 11 341 participants enrolled in the My Life, Our Future hemophilia genotyping initiative in the United StatesJill M Johnsen, Shelley N Fletcher, Angela Dove, et al.Nature Communications|September 26, 2014
Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancerColin C Pritchard, Colm Morrissey, Akash Kumar, et al.Cell Genomics|February 21, 2026
A multiplex, prime editing framework for identifying drug resistance variants at scaleFlorence M C Abadie, Chase C Suiter, Nahum T Smith, et al.Nature Genetics|October 25, 2011
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogasterXinxian Deng, Joseph B Hiatt, Di Kim Nguyen, et al.Medrxiv : the Preprint Server for Health Sciences|December 17, 2020
Comparable specimen collection from both ends of at-home mid-turbinate swabsMelissa Truong, Brian Pfau, Evan McDermot, et al.European Journal of Human Genetics : EJHG|December 24, 2015
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilityMuhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, et al.Science Translational Medicine|June 8, 2012
Noninvasive whole-genome sequencing of a human fetusJacob O Kitzman, Matthew W Snyder, Mario Ventura, et al.Pageof 47