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American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.Bioorganic & Medicinal Chemistry Letters|June 10, 2019
Identification of substituted benzothiazole sulfones as potent and selective inhibitors of endothelial lipaseSoong-Hoon Kim, James A Johnson, Ji Jiang, et al.American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.Bioorganic & Medicinal Chemistry Letters|April 1, 2008
2-Arylbenzoxazoles as novel cholesteryl ester transfer protein inhibitors: optimization via array synthesisLalgudi S Harikrishnan, Muthoni G Kamau, Timothy F Herpin, et al.Proceedings of the National Academy of Sciences of the United States of America|July 5, 2022
Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse modelAnna Axelsson Raja, Hiroko Wakimoto, Daniel M DeLaughter, et al.American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.Journal of Medicinal Chemistry|January 29, 2020
Identification of Reversible Small Molecule Inhibitors of Endothelial Lipase (EL) That Demonstrate HDL-C Increase In VivoGeorge Tora, Soong-Hoon Kim, Zulan Pi, et al.Med (New York, N.Y.)|November 14, 2023
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human diseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human DiseaseLeigh C Carmody, Michael A Gargano, Sabrina Toro, et al.Journal of Medical Genetics|May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypesDamien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.Pageof 53