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Brain : a Journal of Neurology|March 10, 2018
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3Yonatan Perez, Shay Menascu, Idan Cohen, et al.American Journal of Human Genetics|September 3, 2011
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2Shikma Mordechai, Libe Gradstein, Annika Pasanen, et al.American Journal of Human Genetics|October 6, 2010
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophyOrly Agamy, Bruria Ben Zeev, Dorit Lev, et al.Molecular Autism|June 4, 2020
Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASDDanijela Drakulic, Srdjan Djurovic, Yasir Ahmed Syed, et al.Pageof 6