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The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Brain : a Journal of Neurology|June 25, 2020
Modelling and treating GRIN2A developmental and epileptic encephalopathy in miceAriadna Amador, Christopher D Bostick, Heather Olson, et al.
Nature|August 2, 2023
Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
Nature Medicine|September 25, 2019
A framework for the investigation of rare genetic disorders in neuropsychiatryStephan J Sanders, Mustafa Sahin, Joseph Hostyk, et al.
Plos Pathogens|April 4, 2023
Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, TanzaniaMichaela Zwyer, Liliana K Rutaihwa, Etthel Windels, et al.
Brain : a Journal of Neurology|April 19, 2007
Large-scale pathways-based association study in amyotrophic lateral sclerosisDalia Kasperaviciute, Mike E Weale, Kevin V Shianna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
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