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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.Perspectives on Psychological Science : a Journal of the Association for Psychological Science|July 18, 2015
Registered Replication Report: Schooler and Engstler-Schooler (1990)V K Alogna, M K Attaya, P Aucoin, et al.Science (New York, N.Y.)|March 31, 2022
The complete sequence of a human genomeSergey Nurk, Sergey Koren, Arang Rhie, et al.JAMA Network Open|July 11, 2023
Baseline Features and Reasons for Nonparticipation in the Colonoscopy Versus Fecal Immunochemical Test in Reducing Mortality From Colorectal Cancer (CONFIRM) Study, a Colorectal Cancer Screening TrialDouglas J Robertson, Jason A Dominitz, Alexander Beed, et al.Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.Physical Review Letters|January 30, 2026
First Results on the Search for Lepton Number Violating Neutrinoless Double-β Decay with the LEGEND-200 ExperimentH Acharya, N Ackermann, M Agostini, et al.Pageof 212