dc.contributor.author | Krab, Lianne C. | |
dc.contributor.author | Marcos Alcalde, Íñigo | |
dc.contributor.author | Hennekam, Raoul C. | |
dc.date.accessioned | 2020-10-19T09:39:26Z | |
dc.date.available | 2020-10-19T09:39:26Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 1432-1203 | spa |
dc.identifier.uri | http://hdl.handle.net/10641/2008 | |
dc.language.iso | eng | spa |
dc.publisher | Human Genetics | spa |
dc.rights | Atribución-NoComercial-SinDerivadas 3.0 España | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.subject | RAD21 | spa |
dc.subject | NIPBL | spa |
dc.subject | SMC1A | spa |
dc.subject | Cohesinopathy | spa |
dc.subject | Cornelia de Lange syndrome | spa |
dc.subject | Mungan syndrome | spa |
dc.subject | Genotype-phenotype correlation | spa |
dc.title | Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 | spa |
dc.type | article | spa |
dc.description.version | pre-print | spa |
dc.rights.accessRights | openAccess | spa |
dc.description.extent | 1045 KB | spa |
dc.identifier.doi | 10.1007/s00439-020-02138-2 | spa |
dc.relation.publisherversion | https://link.springer.com/article/10.1007/s00439-020-02138-2 | spa |