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American Journal of Human Genetics|October 8, 2019
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive ImpairmentSarah K Fiordaliso, Aiko Iwata-Otsubo, Alyssa L Ritter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 8, 2013
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and futureOmri Gottesman, Helena Kuivaniemi, Gerard Tromp, et al.BMC Medicine|July 18, 2019
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE NetworkBahram Namjou, Todd Lingren, Yongbo Huang, et al.Nature Medicine|July 23, 2013
Thymic stromal lymphopoietin-elicited basophil responses promote eosinophilic esophagitisMario Noti, Elia D Tait Wojno, Brian S Kim, et al.Genetics|April 25, 2020
Lung Function in African American Children with Asthma Is Associated with Novel Regulatory Variants of the KIT Ligand KITLG/SCF and Gene-By-Air-Pollution InteractionAngel C Y Mak, Satria Sajuthi, Jaehyun Joo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2023
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scoresJohn J Connolly, Eta S Berner, Maureen Smith, et al.Nature Communications|June 26, 2019
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failurePablo Cordero, Victoria N Parikh, Elizabeth T Chin, et al.American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.Genome Research|July 14, 2009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh, Xiaowu Gai, Juan C Perin, et al.Pageof 91