To access the full text documents, please follow this link: http://hdl.handle.net/2445/119645
dc.contributor | Universitat de Barcelona |
---|---|
dc.contributor.author | Urreizti Frexedas, Roser |
dc.contributor.author | Cueto Gonzalez, Anna Maria |
dc.contributor.author | Franco Valls, Héctor |
dc.contributor.author | Mort Farre, Sílvia |
dc.contributor.author | Roca Ayats, Neus |
dc.contributor.author | Ponomarenko, Julia |
dc.contributor.author | Cozzuto, Luca |
dc.contributor.author | Company, Carlos |
dc.contributor.author | Bosio, Mattia |
dc.contributor.author | Ossowski, Stephan |
dc.contributor.author | Montfort, Magda |
dc.contributor.author | Hecht, Jochen |
dc.contributor.author | Tizzano, Eduardo F. |
dc.contributor.author | Cormand Rifà, Bru |
dc.contributor.author | Vilageliu i Arqués, Lluïsa |
dc.contributor.author | Opitz, John M. |
dc.contributor.author | Neri, Giovanni |
dc.contributor.author | Grinberg Vaisman, Daniel Raúl |
dc.contributor.author | Balcells Comas, Susana |
dc.date | 2018-02-07T12:24:26Z |
dc.date | 2018-02-07T12:24:26Z |
dc.date | 2017-03-10 |
dc.date | 2018-02-07T12:24:26Z |
dc.identifier.citation | 2045-2322 |
dc.identifier.citation | 666489 |
dc.identifier.uri | http://hdl.handle.net/2445/119645 |
dc.format | 7 p. |
dc.format | application/pdf |
dc.language.iso | eng |
dc.publisher | Nature Publishing Group |
dc.relation | Reproducció del document publicat a: https://doi.org/10.1038/srep44138 |
dc.relation | Scientific Reports, 2017, vol. 7, num. 44138 |
dc.relation | https://doi.org/10.1038/srep44138 |
dc.rights | cc-by (c) Urreizti, Roser et al., 2017 |
dc.rights | info:eu-repo/semantics/openAccess |
dc.rights | http://creativecommons.org/licenses/by/3.0/es |
dc.subject | Neurobiologia del desenvolupament |
dc.subject | Biologia molecular |
dc.subject | Developmental neurobiology |
dc.subject | Molecular biology |
dc.title | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes |
dc.type | info:eu-repo/semantics/article |
dc.type | info:eu-repo/semantics/publishedVersion |
dc.description.abstract |