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Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems
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| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Kim, H. | - |
| dc.contributor.author | Rosenfeld, J. A. | - |
| dc.contributor.author | Scott, D. A. | - |
| dc.contributor.author | Benedicte, G. | - |
| dc.contributor.author | Labonne, J. D. | - |
| dc.contributor.author | Brown, J. | - |
| dc.contributor.author | McGuire, M. | - |
| dc.contributor.author | Mahida, S. | - |
| dc.contributor.author | Naidu, S. | - |
| dc.contributor.author | Gutierrez, J. | - |
| dc.contributor.author | Lesca, G. | - |
| dc.contributor.author | Portes, V. D. | - |
| dc.contributor.author | Bruel, A. | - |
| dc.contributor.author | Sorlin, A. | - |
| dc.contributor.author | Xia, F. | - |
| dc.contributor.author | Capri, Y. | - |
| dc.contributor.author | Muller, E. | - |
| dc.contributor.author | McKnight, D. | - |
| dc.contributor.author | Torti, E. | - |
| dc.contributor.author | Layman, L. C. | - |
| dc.contributor.author | Ryu, D. | - |
| dc.contributor.author | Kong, I. | - |
| dc.contributor.author | Madan-Khetarpal, S. | - |
| dc.contributor.author | Kim, C. | - |
| dc.date.accessioned | 2022-12-26T14:32:57Z | - |
| dc.date.available | 2022-12-26T14:32:57Z | - |
| dc.date.issued | 2019-10 | - |
| dc.identifier.issn | 1018-4813 | - |
| dc.identifier.issn | 1476-5438 | - |
| dc.identifier.uri | https://scholarworks.gnu.ac.kr/handle/sw.gnu/8718 | - |
| dc.format.extent | 1 | - |
| dc.language | 영어 | - |
| dc.language.iso | ENG | - |
| dc.publisher | Natue Publishing Group | - |
| dc.title | Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems | - |
| dc.type | Article | - |
| dc.publisher.location | 영국 | - |
| dc.identifier.wosid | 000489313903018 | - |
| dc.identifier.bibliographicCitation | European Journal of Human Genetics, v.27, pp 1394 - 1394 | - |
| dc.citation.title | European Journal of Human Genetics | - |
| dc.citation.volume | 27 | - |
| dc.citation.startPage | 1394 | - |
| dc.citation.endPage | 1394 | - |
| dc.type.docType | Meeting Abstract | - |
| dc.description.isOpenAccess | N | - |
| dc.description.journalRegisteredClass | sci | - |
| dc.description.journalRegisteredClass | scie | - |
| dc.description.journalRegisteredClass | scopus | - |
| dc.relation.journalResearchArea | Biochemistry & Molecular Biology | - |
| dc.relation.journalResearchArea | Genetics & Heredity | - |
| dc.relation.journalWebOfScienceCategory | Biochemistry & Molecular Biology | - |
| dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
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