De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
| dc.contributor.author | Fernández Mayoralas, Daniel Martín | |
| dc.contributor.author | Calleja Pérez, Beatriz | |
| dc.contributor.author | Álvarez de Andrés, Sara | |
| dc.contributor.author | Fernández Jaén, Alberto | |
| dc.date.accessioned | 2022-04-01T18:51:14Z | |
| dc.date.available | 2022-04-01T18:51:14Z | |
| dc.date.issued | 2020 | |
| dc.description.filiation | UEM | spa |
| dc.description.impact | 3.109 JCR (2020) Q3, 115/208 Clinical Neurology | spa |
| dc.description.impact | 0.595 SJR (2020) Q2, 1138/2446 Medicine (miscellaneous) | spa |
| dc.description.impact | No data IDR 2020 | spa |
| dc.description.sponsorship | Sin financiación | spa |
| dc.identifier.citation | Fernández-Mayoralas, D. M., Calleja-Pérez, B., Álvarez, S., & Fernández-Jaén, A. (2020). De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. Neurología, 35(8), 601–603. https://doi.org/10.1016/j.nrl.2019.05.006 | spa |
| dc.identifier.doi | 10.1016/j.nrl.2019.05.006 | |
| dc.identifier.issn | 0213-4853 | |
| dc.identifier.issn | 1578-1968 | |
| dc.identifier.uri | http://hdl.handle.net/11268/11005 | |
| dc.language.iso | eng | spa |
| dc.peerreviewed | Si | spa |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
| dc.rights.accessRights | open access | spa |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
| dc.subject.unesco | Enfermedad del sistema nervioso | spa |
| dc.subject.unesco | Mutación | spa |
| dc.subject.unesco | Biotecnología | spa |
| dc.title | De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment | spa |
| dc.title.alternative | Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje | spa |
| dc.type | journal article | spa |
| dspace.entity.type | Publication | |
| relation.isAuthorOfPublication | 43ff270b-686a-4348-b78b-de324ba69882 | |
| relation.isAuthorOfPublication.latestForDiscovery | 43ff270b-686a-4348-b78b-de324ba69882 |
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