De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
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| Title: | De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. |
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| Authors: | Webster, R.1, Cho, M.T.2, Retterer, K.2, Millan, F.2, Nowak, C.3, Douglas, J.3, Ahmad, A.4, Raymond, G.V.5, Johnson, M.R.5, Pujol, A.6, Begtrup, A.2, McKnight, D.2, Devinsky, O.7, Chung, W.K.8 wkc15@columbia.edu |
| Source: | Clinical Genetics. May2017, Vol. 91 Issue 5, p756-763. 8p. 1 Color Photograph, 2 Charts. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 122451656 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=122451656 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12854 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 756 Titles: – TitleFull: De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Webster, R. – PersonEntity: Name: NameFull: Cho, M.T. – PersonEntity: Name: NameFull: Retterer, K. – PersonEntity: Name: NameFull: Millan, F. – PersonEntity: Name: NameFull: Nowak, C. – PersonEntity: Name: NameFull: Douglas, J. – PersonEntity: Name: NameFull: Ahmad, A. – PersonEntity: Name: NameFull: Raymond, G.V. – PersonEntity: Name: NameFull: Johnson, M.R. – PersonEntity: Name: NameFull: Pujol, A. – PersonEntity: Name: NameFull: Begtrup, A. – PersonEntity: Name: NameFull: McKnight, D. – PersonEntity: Name: NameFull: Devinsky, O. – PersonEntity: Name: NameFull: Chung, W.K. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 91 – Type: issue Value: 5 Titles: – TitleFull: Clinical Genetics Type: main |
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