Show simple item record

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

dc.contributor.authorKúry, Sébastien
dc.contributor.authorBesnard, Thomas
dc.contributor.authorEbstein, Frédéric
dc.contributor.authorKhan, Tahir N.
dc.contributor.authorGambin, Tomasz
dc.contributor.authorDouglas, Jessica
dc.contributor.authorBacino, Carlos A.
dc.contributor.authorCraigen, William J.
dc.contributor.authorSanders, Stephan J.
dc.contributor.authorLehmann, Andrea
dc.contributor.authorLatypova, Xénia
dc.contributor.authorKhan, Kamal
dc.contributor.authorPacault, Mathilde
dc.contributor.authorSacharow, Stephanie
dc.contributor.authorGlaser, Kimberly
dc.contributor.authorBieth, Eric
dc.contributor.authorPerrin-Sabourin, Laurence
dc.contributor.authorJacquemont, Marie-Line
dc.contributor.authorCho, Megan T.
dc.contributor.authorRoeder, Elizabeth
dc.contributor.authorDenommé-Pichon, Anne-Sophie
dc.contributor.authorMonaghan, Kristin G.
dc.contributor.authorYuan, Bo
dc.contributor.authorXia, Fan
dc.contributor.authorSylvain, Simon
dc.contributor.authorBonneau, Dominique
dc.contributor.authorParent, Philippe
dc.contributor.authorGilbert-Dussardier, Brigitte
dc.contributor.authorOdent, Sylvie
dc.contributor.authorToutain, Annick
dc.contributor.authorPasquier, Laurent
dc.contributor.authorBarbouth, Deborah
dc.contributor.authorShaw, Chad A.
dc.contributor.authorPatel, Ankita
dc.contributor.authorSmith, Janice L.
dc.contributor.authorBi, Weimin
dc.contributor.authorSchmitt, Sébastien
dc.contributor.authorDeb, Wallid
dc.contributor.authorNizon, Mathilde
dc.contributor.authorMercier, Sandra
dc.contributor.authorVincent, Marie
dc.contributor.authorRooryck, Caroline
dc.contributor.authorMalan, Valérrie
dc.contributor.authorBriceño, Ignacio
dc.contributor.authorGómez, Alberto
dc.contributor.authorNugent, Kimberly M.
dc.contributor.authorGibson, James B.
dc.contributor.authorCogné, Benjamin
dc.contributor.authorLupski, James R.
dc.contributor.authorStessman, Holly A. F.
dc.contributor.authorEichler, Evan E.
dc.contributor.authorRetterer, Kyle
dc.contributor.authorYang, Yaping
dc.contributor.authorRedon, Richard
dc.contributor.authorKatsanis, Nicholas
dc.contributor.authorRosenfeld, Jill A.
dc.contributor.authorKloetzel, Peter-Michael
dc.contributor.authorGolzio, Christelle
dc.contributor.authorBézieau, Stéphane
dc.contributor.authorStankiewicz, Pawe
dc.contributor.authorIsidor, Bertrand
dc.date.accessioned2020-03-10T15:03:40Z
dc.date.accessioned2020-04-15T13:32:04Z
dc.date.accessioned2023-05-11T15:52:43Z
dc.date.available2020-03-10T15:03:40Z
dc.date.available2020-04-15T13:32:04Z
dc.date.available2023-05-11T15:52:43Z
dc.date.created2017-01-04
dc.identifierhttps://www.cell.com/ajhg/fulltext/S0002-9297(17)30003-4spa
dc.identifier.issn00029297 / 15376605 (Electrónico)spa
dc.identifier.urihttps://hdl.handle.net/20.500.12032/100572
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.languagespaspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceAmerican Journal of Human Genetics; Vol. 100 Núm. 2 (2017)spa
dc.titleDe novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorderspa
dc.typeinfo:eu-repo/semantics/article


Files in this item

FilesSizeFormatView
Hum Genet 100(2).pdf1.867Mbapplication/pdfView/Open

This item appears in the following Collection(s)

Show simple item record

http://creativecommons.org/licenses/by-nc/4.0/
Except where otherwise noted, this item's license is described as http://creativecommons.org/licenses/by-nc/4.0/
© AUSJAL 2022

Asociación de Universidades Confiadas a la Compañía de Jesús en América Latina, AUSJAL
Av. Santa Teresa de Jesús Edif. Cerpe, Piso 2, Oficina AUSJAL Urb.
La Castellana, Chacao (1060) Caracas - Venezuela
Tel/Fax (+58-212)-266-13-41 /(+58-212)-266-85-62

Contact Us | Send Feedback
Nuestras redes sociales

facebook Facebook

twitter Twitter

youtube Youtube

Asociaciones Jesuitas en el mundo
Ausjal en el mundo AJCU AUSJAL JESAM JCEP JCS JCAP