Showing results (961-970 of 1,165) with videos related to
Sort By:
Pageof 117
Human Mutation|August 8, 2018
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVPrzemyslaw Szafranski, Ewelina Kośmider, Qian Liu, et al.Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, et al.Journal of Inherited Metabolic Disease|September 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular traffickingRuizhi Duan, Dana Marafi, Zhi-Jie Xia, et al.Nature|January 5, 2018
Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV hostDavid Palesch, Steven E Bosinger, Gregory K Tharp, et al.Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.HGG Advances|May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndromeAngad Jolly, Haowei Du, Christelle Borel, et al.JAMA Oncology|January 18, 2024
Endocrine-Sensitive Disease Rate in Postmenopausal Patients With Estrogen Receptor-Rich/ERBB2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, or Their Combination: A Phase 3 Randomized Clinical TrialCynthia X Ma, Vera J Suman, Souzan Sanati, 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.Pageof 117