Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
| 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.description.extent | 1045 KB | spa |
| dc.identifier.doi | 10.1007/s00439-020-02138-2 | spa |
| 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.relation.publisherversion | https://link.springer.com/article/10.1007/s00439-020-02138-2 | spa |
| dc.rights | Atribución-NoComercial-SinDerivadas 3.0 España | * |
| dc.rights.accessRights | open access | spa |
| 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 | journal article | spa |
| dc.type.hasVersion | SMUR | spa |
| dspace.entity.type | Publication | |
| relation.isAuthorOfPublication | 699d5be0-fd5f-4819-99da-c5057d24c3fc | |
| relation.isAuthorOfPublication.latestForDiscovery | 699d5be0-fd5f-4819-99da-c5057d24c3fc |
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