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Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.Biorxiv : the Preprint Server for Biology|January 9, 2026
Optimization and Characterization of SHIP1 Ligands for Cellular Target Engagement and Activity in Alzheimer's Disease ModelsCynthia D Jesudason, Claudia Rangel-Barajas, Colin J Beach, et al.American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.Blood Advances|April 9, 2025
Critical Bleeding in Adults and Children with Immune Thrombocytopenia: A Multicenter Cohort StudyEmily Sirotich, Saifur R Chowdhury, Dimpy Modi, et al.Journal of Medicinal Chemistry|April 30, 2026
Optimization and Characterization of SHIP1 Ligands for Cellular Target Engagement and Activity in Alzheimer's Disease ModelsCynthia D Jesudason, Claudia Rangel-Barajas, Colin J Beach, et al.European Journal of Haematology|November 18, 2024
Treatment of Critical Bleeds in Patients With Immune Thrombocytopenia: A Systematic ReviewSaifur R Chowdhury, Emily Sirotich, Gordon Guyatt, 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.Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, 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.Pageof 79