| 000 | 02748 a2200901 4500 | ||
|---|---|---|---|
| 005 | 20250517150112.0 | ||
| 008 | ####s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2017.03.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKüry, Sébastien | |
| 245 | 0 | 0 |
_aDe Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c04 2017 |
||
| 300 |
_a689 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Published Erratum | ||
| 700 | 1 | _aBesnard, Thomas | |
| 700 | 1 | _aEbstein, Frédéric | |
| 700 | 1 | _aKhan, Tahir N | |
| 700 | 1 | _aGambin, Tomasz | |
| 700 | 1 | _aDouglas, Jessica | |
| 700 | 1 | _aBacino, Carlos A | |
| 700 | 1 | _aCraigen, William J | |
| 700 | 1 | _aSanders, Stephan J | |
| 700 | 1 | _aLehmann, Andrea | |
| 700 | 1 | _aLatypova, Xénia | |
| 700 | 1 | _aKhan, Kamal | |
| 700 | 1 | _aPacault, Mathilde | |
| 700 | 1 | _aSacharow, Stephanie | |
| 700 | 1 | _aGlaser, Kimberly | |
| 700 | 1 | _aBieth, Eric | |
| 700 | 1 | _aPerrin-Sabourin, Laurence | |
| 700 | 1 | _aJacquemont, Marie-Line | |
| 700 | 1 | _aCho, Megan T | |
| 700 | 1 | _aRoeder, Elizabeth | |
| 700 | 1 | _aDenommé-Pichon, Anne-Sophie | |
| 700 | 1 | _aMonaghan, Kristin G | |
| 700 | 1 | _aYuan, Bo | |
| 700 | 1 | _aXia, Fan | |
| 700 | 1 | _aSimon, Sylvain | |
| 700 | 1 | _aBonneau, Dominique | |
| 700 | 1 | _aParent, Philippe | |
| 700 | 1 | _aGilbert-Dussardier, Brigitte | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aToutain, Annick | |
| 700 | 1 | _aPasquier, Laurent | |
| 700 | 1 | _aBarbouth, Deborah | |
| 700 | 1 | _aShaw, Chad A | |
| 700 | 1 | _aPatel, Ankita | |
| 700 | 1 | _aSmith, Janice L | |
| 700 | 1 | _aBi, Weimin | |
| 700 | 1 | _aSchmitt, Sébastien | |
| 700 | 1 | _aDeb, Wallid | |
| 700 | 1 | _aNizon, Mathilde | |
| 700 | 1 | _aMercier, Sandra | |
| 700 | 1 | _aVincent, Marie | |
| 700 | 1 | _aRooryck, Caroline | |
| 700 | 1 | _aMalan, Valérie | |
| 700 | 1 | _aBriceño, Ignacio | |
| 700 | 1 | _aGómez, Alberto | |
| 700 | 1 | _aNugent, Kimberly M | |
| 700 | 1 | _aGibson, James B | |
| 700 | 1 | _aCogné, Benjamin | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aStessman, Holly A F | |
| 700 | 1 | _aEichler, Evan E | |
| 700 | 1 | _aRetterer, Kyle | |
| 700 | 1 | _aYang, Yaping | |
| 700 | 1 | _aRedon, Richard | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aRosenfeld, Jill A | |
| 700 | 1 | _aKloetzel, Peter-Michael | |
| 700 | 1 | _aGolzio, Christelle | |
| 700 | 1 | _aBézieau, Stéphane | |
| 700 | 1 | _aStankiewicz, Paweł | |
| 700 | 1 | _aIsidor, Bertrand | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 100 _gno. 4 _gp. 689 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2017.03.003 _zAvailable from publisher's website |
| 999 |
_c27060406 _d27060406 |
||