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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
DOI: 10.1016/j.ajhg.2017.03.003
Alberto Gómez, Andrea Lehmann, Ankita Patel, Anne-Sophie Denommé-Pichon, Annick Toutain, Benjamin Cogné, Bo Yuan, Brigitte Gilbert-Dussardier, Carlos A. Bacino, Caroline Rooryck, Chad A. Shaw, Christelle Golzio, Deborah Barbouth, Dominique Bonneau, Elizabeth Roeder, Eric Bieth, Evan E. Eichler, Fan Xia, Frédéric Ebstein, Holly A.F. Stessman, Ignacio Brice？o, James B. Gibson, James R. Lupski, Janice L. Smith, Jessica Douglas, Jill A. Rosenfeld, Kamal Khan, Kimberly Glaser, Kimberly M. Nugent, Kristin G. Monaghan, Kyle Retterer, Laurence Perrin-Sabourin, Laurent Pasquier, Marie Vincent, Marie-Line Jacquemont, Mathilde Nizon, Mathilde Pacault, Megan T. Cho, Nicholas Katsanis, Pawe？ Stankiewicz, Peter-Michael Kloetzel, Philippe Parent, Richard Redon, Sandra Mercier, Stephan J. Sanders, Stephanie Sacharow, Stéphane Bézieau, Sylvain Simon, Sylvie Odent, Sébastien Küry, Sébastien Schmitt, Tahir N. Khan, Thomas Besnard, Tomasz Gambin, Valérie Malan, Wallid Deb, Weimin Bi, William J. Craigen, Xénia Latypova, Yaping Yang
Abstract:
(The American Journal of Human Genetics 100, 352–363; February 2, 2017 Full-Text
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