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Journal of the American College of Cardiology|April 4, 2015
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissectionsAida M Bertoli-Avella, Elisabeth Gillis, Hiroko Morisaki, et al.American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.Global Change Biology|December 30, 2021
Global maps of soil temperatureJonas J Lembrechts, Johan van den Hoogen, Juha Aalto, et al.Pageof 101