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Nature Genetics|June 5, 2007
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, et al.Cancer Research|October 25, 2013
APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinomaBrandon Leonard, Steven N Hart, Michael B Burns, et al.Journal of the Endocrine Society|January 9, 2019
Predicted Benign and Synonymous Variants in <i>CYP11A1</i> Cause Primary Adrenal Insufficiency Through MissplicingAvinaash Maharaj, Federica Buonocore, Eirini Meimaridou, et al.Elife|January 24, 2023
Antibody levels following vaccination against SARS-CoV-2: associations with post-vaccination infection and risk factors in two UK longitudinal studiesNathan J Cheetham, Milla Kibble, Andrew Wong, et al.The British Journal of General Practice : the Journal of the Royal College of General Practitioners|January 2, 2024
Digital intervention (Renewed) to support symptom management, wellbeing, and quality of life among cancer survivors in primary care: a randomised controlled trialPaul Little, Katherine Bradbury, Beth Stuart, et al.American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.Biorxiv : the Preprint Server for Biology|October 24, 2023
Sexually dimorphic mechanisms of VGLUT-mediated protection from dopaminergic neurodegenerationSilas A Buck, Sophie A Rubin, Tenzin Kunkhyen, et al.Endocrine-Related Cancer|February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responsesAlbert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.Cell Metabolism|July 3, 2024
The activity of early-life gene regulatory elements is hijacked in aging through pervasive AP-1-linked chromatin openingRalph Patrick, Marina Naval-Sanchez, Nikita Deshpande, et al.Nature|December 18, 2009
A comprehensive catalogue of somatic mutations from a human cancer genomeErin D Pleasance, R Keira Cheetham, Philip J Stephens, et al.Pageof 149