dc.contributor.author | Kúry, Sébastien | |
dc.contributor.author | Besnard, Thomas | |
dc.contributor.author | Ebstein, Frédéric | |
dc.contributor.author | Khan, Tahir N. | |
dc.contributor.author | Gambin, Tomasz | |
dc.contributor.author | Douglas, Jessica | |
dc.contributor.author | Bacino, Carlos A. | |
dc.contributor.author | Craigen, William J. | |
dc.contributor.author | Sanders, Stephan J. | |
dc.contributor.author | Lehmann, Andrea | |
dc.contributor.author | Latypova, Xénia | |
dc.contributor.author | Khan, Kamal | |
dc.contributor.author | Pacault, Mathilde | |
dc.contributor.author | Sacharow, Stephanie | |
dc.contributor.author | Glaser, Kimberly | |
dc.contributor.author | Bieth, Eric | |
dc.contributor.author | Perrin-Sabourin, Laurence | |
dc.contributor.author | Jacquemont, Marie-Line | |
dc.contributor.author | Cho, Megan T. | |
dc.contributor.author | Roeder, Elizabeth | |
dc.contributor.author | Denommé-Pichon, Anne-Sophie | |
dc.contributor.author | Monaghan, Kristin G. | |
dc.contributor.author | Yuan, Bo | |
dc.contributor.author | Xia, Fan | |
dc.contributor.author | Sylvain, Simon | |
dc.contributor.author | Bonneau, Dominique | |
dc.contributor.author | Parent, Philippe | |
dc.contributor.author | Gilbert-Dussardier, Brigitte | |
dc.contributor.author | Odent, Sylvie | |
dc.contributor.author | Toutain, Annick | |
dc.contributor.author | Pasquier, Laurent | |
dc.contributor.author | Barbouth, Deborah | |
dc.contributor.author | Shaw, Chad A. | |
dc.contributor.author | Patel, Ankita | |
dc.contributor.author | Smith, Janice L. | |
dc.contributor.author | Bi, Weimin | |
dc.contributor.author | Schmitt, Sébastien | |
dc.contributor.author | Deb, Wallid | |
dc.contributor.author | Nizon, Mathilde | |
dc.contributor.author | Mercier, Sandra | |
dc.contributor.author | Vincent, Marie | |
dc.contributor.author | Rooryck, Caroline | |
dc.contributor.author | Malan, Valérrie | |
dc.contributor.author | Briceño, Ignacio | |
dc.contributor.author | Gómez, Alberto | |
dc.contributor.author | Nugent, Kimberly M. | |
dc.contributor.author | Gibson, James B. | |
dc.contributor.author | Cogné, Benjamin | |
dc.contributor.author | Lupski, James R. | |
dc.contributor.author | Stessman, Holly A. F. | |
dc.contributor.author | Eichler, Evan E. | |
dc.contributor.author | Retterer, Kyle | |
dc.contributor.author | Yang, Yaping | |
dc.contributor.author | Redon, Richard | |
dc.contributor.author | Katsanis, Nicholas | |
dc.contributor.author | Rosenfeld, Jill A. | |
dc.contributor.author | Kloetzel, Peter-Michael | |
dc.contributor.author | Golzio, Christelle | |
dc.contributor.author | Bézieau, Stéphane | |
dc.contributor.author | Stankiewicz, Pawe | |
dc.contributor.author | Isidor, Bertrand | |
dc.date.accessioned | 2020-03-10T15:03:40Z | |
dc.date.accessioned | 2020-04-15T13:32:04Z | |
dc.date.accessioned | 2023-05-11T15:52:43Z | |
dc.date.available | 2020-03-10T15:03:40Z | |
dc.date.available | 2020-04-15T13:32:04Z | |
dc.date.available | 2023-05-11T15:52:43Z | |
dc.date.created | 2017-01-04 | |
dc.identifier | https://www.cell.com/ajhg/fulltext/S0002-9297(17)30003-4 | spa |
dc.identifier.issn | 00029297 / 15376605 (Electrónico) | spa |
dc.identifier.uri | https://hdl.handle.net/20.500.12032/100572 | |
dc.format | PDF | spa |
dc.format.mimetype | application/pdf | spa |
dc.language | spa | spa |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | * |
dc.source | American Journal of Human Genetics; Vol. 100 Núm. 2 (2017) | spa |
dc.title | De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder | spa |
dc.type | info:eu-repo/semantics/article | |