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Proceedings of the National Academy of Sciences of the United States of America|February 2, 2021
Cytoplasmic synthesis of endogenous Alu complementary DNA via reverse transcription and implications in age-related macular degenerationShinichi Fukuda, Akhil Varshney, Benjamin J Fowler, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.Blood Advances|July 5, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41Claire C Homan, Michael W Drazer, Kai Yu, et al.Nature Genetics|September 10, 2013
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemiaSohela Shah, Kasmintan A Schrader, Esmé Waanders, et al.American Journal of Human Genetics|November 4, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretationEmma Tudini, James Andrews, David M Lawrence, et al.Journal of Virology|January 3, 2024
Virology-the path forwardAngela L Rasmussen, Gigi K Gronvall, Anice C Lowen, et al.Science (New York, N.Y.)|November 6, 2010
The detection of a population of submillimeter-bright, strongly lensed galaxiesMattia Negrello, R Hopwood, G De Zotti, et al.Developmental Cognitive Neuroscience|September 28, 2024
Quantifying brain development in the HEALthy Brain and Child Development (HBCD) Study: The magnetic resonance imaging and spectroscopy protocolDouglas C Dean, M Dylan Tisdall, Jessica L Wisnowski, et al.Nature|September 21, 2022
Failure of human rhombic lip differentiation underlies medulloblastoma formationLiam D Hendrikse, Parthiv Haldipur, Olivier Saulnier, et al.Pageof 203