1. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
- Author
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Lessel, Davor, primary, Schob, Claudia, additional, Küry, Sébastien, additional, Reijnders, Margot R.F., additional, Harel, Tamar, additional, Eldomery, Mohammad K., additional, Coban-Akdemir, Zeynep, additional, Denecke, Jonas, additional, Edvardson, Shimon, additional, Colin, Estelle, additional, Stegmann, Alexander P.A., additional, Gerkes, Erica H., additional, Tessarech, Marine, additional, Bonneau, Dominique, additional, Barth, Magalie, additional, Besnard, Thomas, additional, Cogné, Benjamin, additional, Revah-Politi, Anya, additional, Strom, Tim M., additional, Rosenfeld, Jill A., additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Immken, LaDonna, additional, Oundjian, Nelly, additional, Helbig, Katherine L., additional, Meeks, Naomi, additional, Zegar, Kelsey, additional, Morton, Jenny, additional, Schieving, Jolanda H., additional, Claasen, Ana, additional, Huentelman, Matthew, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Brunner, Han G., additional, Elpeleg, Orly, additional, Mercier, Sandra, additional, Bézieau, Stéphane, additional, Kubisch, Christian, additional, Kleefstra, Tjitske, additional, Kindler, Stefan, additional, Lupski, James R., additional, and Kreienkamp, Hans-Jürgen, additional
- Published
- 2017
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