Browsing by Author "Xia, Fan"
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Küry, Sébastien; Besnard, Thomas; Ebstein, Frédéric; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xénia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie Line; Cho, Megan T; Roeder, Elizabeth; Denommé Pichon, Anne Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah Sara; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sébastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valérie; Briceño Balcázar, Ignacio; Gómez Gutiérrez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogné, Benjamin; Lupski, James R.; Stessman, Holly A.F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter Michael; Golzio, Christelle; Bézieau, Stéphane; Stankiewicz, Paweł; Isidor, Bertrand (The American Journal of Human Genetics, 2017-02-02)