Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
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| Title: | Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. |
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| Authors: | Carvill GL; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA., Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC |
| Source: | Nature genetics [Nat Genet] 2013 Jul; Vol. 45 (7), pp. 825-30. Date of Electronic Publication: 2013 May 26. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23708187 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Carvill+GL%22">Carvill GL</searchLink>; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Heavin+SB%22">Heavin SB</searchLink><br /><searchLink fieldCode="AU" term="%22Yendle+SC%22">Yendle SC</searchLink><br /><searchLink fieldCode="AU" term="%22McMahon+JM%22">McMahon JM</searchLink><br /><searchLink fieldCode="AU" term="%22O'Roak+BJ%22">O'Roak BJ</searchLink><br /><searchLink fieldCode="AU" term="%22Cook+J%22">Cook J</searchLink><br /><searchLink fieldCode="AU" term="%22Khan+A%22">Khan A</searchLink><br /><searchLink fieldCode="AU" term="%22Dorschner+MO%22">Dorschner MO</searchLink><br /><searchLink fieldCode="AU" term="%22Weaver+M%22">Weaver M</searchLink><br /><searchLink fieldCode="AU" term="%22Calvert+S%22">Calvert S</searchLink><br /><searchLink fieldCode="AU" term="%22Malone+S%22">Malone S</searchLink><br /><searchLink fieldCode="AU" term="%22Wallace+G%22">Wallace G</searchLink><br /><searchLink fieldCode="AU" term="%22Stanley+T%22">Stanley T</searchLink><br /><searchLink fieldCode="AU" term="%22Bye+AM%22">Bye AM</searchLink><br /><searchLink fieldCode="AU" term="%22Bleasel+A%22">Bleasel A</searchLink><br /><searchLink fieldCode="AU" term="%22Howell+KB%22">Howell KB</searchLink><br /><searchLink fieldCode="AU" term="%22Kivity+S%22">Kivity S</searchLink><br /><searchLink fieldCode="AU" term="%22Mackay+MT%22">Mackay MT</searchLink><br /><searchLink fieldCode="AU" term="%22Rodriguez-Casero+V%22">Rodriguez-Casero V</searchLink><br /><searchLink fieldCode="AU" term="%22Webster+R%22">Webster R</searchLink><br /><searchLink fieldCode="AU" term="%22Korczyn+A%22">Korczyn A</searchLink><br /><searchLink fieldCode="AU" term="%22Afawi+Z%22">Afawi Z</searchLink><br /><searchLink fieldCode="AU" term="%22Zelnick+N%22">Zelnick N</searchLink><br /><searchLink fieldCode="AU" term="%22Lerman-Sagie+T%22">Lerman-Sagie T</searchLink><br /><searchLink fieldCode="AU" term="%22Lev+D%22">Lev D</searchLink><br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink><br /><searchLink fieldCode="AU" term="%22Gill+D%22">Gill D</searchLink><br /><searchLink fieldCode="AU" term="%22Andrade+DM%22">Andrade DM</searchLink><br /><searchLink fieldCode="AU" term="%22Freeman+JL%22">Freeman JL</searchLink><br /><searchLink fieldCode="AU" term="%22Sadleir+LG%22">Sadleir LG</searchLink><br /><searchLink fieldCode="AU" term="%22Shendure+J%22">Shendure J</searchLink><br /><searchLink fieldCode="AU" term="%22Berkovic+SF%22">Berkovic SF</searchLink><br /><searchLink fieldCode="AU" term="%22Scheffer+IE%22">Scheffer IE</searchLink><br /><searchLink fieldCode="AU" term="%22Mefford+HC%22">Mefford HC</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2013 Jul; Vol. 45 (7), pp. 825-30. <i>Date of Electronic Publication: </i>2013 May 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Co%22">Nature Pub. Co </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9216904 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1546-1718 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210614036%22">10614036 </searchLink><i>NLM ISO Abbreviation: </i>Nat Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23708187 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/ng.2646 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 825 Titles: – TitleFull: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Carvill GL – PersonEntity: Name: NameFull: Heavin SB – PersonEntity: Name: NameFull: Yendle SC – PersonEntity: Name: NameFull: McMahon JM – PersonEntity: Name: NameFull: O'Roak BJ – PersonEntity: Name: NameFull: Cook J – PersonEntity: Name: NameFull: Khan A – PersonEntity: Name: NameFull: Dorschner MO – PersonEntity: Name: NameFull: Weaver M – PersonEntity: Name: NameFull: Calvert S – PersonEntity: Name: NameFull: Malone S – PersonEntity: Name: NameFull: Wallace G – PersonEntity: Name: NameFull: Stanley T – PersonEntity: Name: NameFull: Bye AM – PersonEntity: Name: NameFull: Bleasel A – PersonEntity: Name: NameFull: Howell KB – PersonEntity: Name: NameFull: Kivity S – PersonEntity: Name: NameFull: Mackay MT – PersonEntity: Name: NameFull: Rodriguez-Casero V – PersonEntity: Name: NameFull: Webster R – PersonEntity: Name: NameFull: Korczyn A – PersonEntity: Name: NameFull: Afawi Z – PersonEntity: Name: NameFull: Zelnick N – PersonEntity: Name: NameFull: Lerman-Sagie T – PersonEntity: Name: NameFull: Lev D – PersonEntity: Name: NameFull: Møller RS – PersonEntity: Name: NameFull: Gill D – PersonEntity: Name: NameFull: Andrade DM – PersonEntity: Name: NameFull: Freeman JL – PersonEntity: Name: NameFull: Sadleir LG – PersonEntity: Name: NameFull: Shendure J – PersonEntity: Name: NameFull: Berkovic SF – PersonEntity: Name: NameFull: Scheffer IE – PersonEntity: Name: NameFull: Mefford HC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2013 Jul Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1546-1718 Numbering: – Type: volume Value: 45 – Type: issue Value: 7 Titles: – TitleFull: Nature genetics Type: main |
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