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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, et al.Nature Communications|January 23, 2021
SARS-CoV-2 induces robust germinal center CD4 T follicular helper cell responses in rhesus macaquesYashavanth Shaan Lakshmanappa, Sonny R Elizaldi, Jamin W Roh, et al.Journal of Medicinal Chemistry|August 31, 2017
Discovery of Fragment-Derived Small Molecules for in Vivo Inhibition of Ketohexokinase (KHK)Kim Huard, Kay Ahn, Paul Amor, et al.Nature|January 7, 2006
Charon's size and an upper limit on its atmosphere from a stellar occultationB Sicardy, A Bellucci, E Gendron, et al.American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.Nature|November 23, 2012
Albedo and atmospheric constraints of dwarf planet Makemake from a stellar occultationJ L Ortiz, B Sicardy, F Braga-Ribas, et al.American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, et al.Nature|October 28, 2011
A Pluto-like radius and a high albedo for the dwarf planet Eris from an occultationB Sicardy, J L Ortiz, M Assafin, et al.Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.Pageof 87