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Nature Genetics|April 4, 2024
Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver diseaseYajie Zhao, Maria Chukanova, Katherine A Kentistou, et al.Physical Review Letters|March 16, 2007
Measurement of the sign of the spectroscopic quadrupole moment for the 2(1)+ state in 70Se: no evidence for oblate shapeA M Hurst, P A Butler, D G Jenkins, et al.Nature Communications|November 30, 2016
Increased DNA methylation variability in type 1 diabetes across three immune effector cell typesDirk S Paul, Andrew E Teschendorff, Mary A N Dang, et al.American Journal of Human Genetics|December 17, 2022
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsyMaimuna S Paul, Anna R Duncan, Casie A Genetti, et al.JAMA Network Open|March 11, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective VariantElena Martinelli, Juntao Ke, Atlas Khan, et al.Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Genetic regulation of fetal hemoglobin across global populationsLiam D Cato, Rick Li, Henry Y Lu, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsyMaimuna S Paul, Sydney L Michener, Hongling Pan, et al.Nature Genetics|November 13, 2012
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementYu Sun, Beata Bak, Nadia Schoenmakers, et al.Scientific Reports|November 15, 2024
Genetic connectivity of wolverines in western North AmericaCasey C Day, Erin L Landguth, Michael A Sawaya, et al.American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.Pageof 156