Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
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| Title: | Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. |
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| Authors: | Buonocore F, Kühnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JKH, Ghirri P, Knöbl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Grüters A, Achermann JC |
| Source: | The Journal of clinical investigation [J Clin Invest] 2017 May 01; Vol. 127 (5), pp. 1700-1713. Date of Electronic Publication: 2017 Mar 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28346228 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Buonocore+F%22">Buonocore F</searchLink><br /><searchLink fieldCode="AU" term="%22Kühnen+P%22">Kühnen P</searchLink><br /><searchLink fieldCode="AU" term="%22Suntharalingham+JP%22">Suntharalingham JP</searchLink><br /><searchLink fieldCode="AU" term="%22Del+Valle+I%22">Del Valle I</searchLink><br /><searchLink fieldCode="AU" term="%22Digweed+M%22">Digweed M</searchLink><br /><searchLink fieldCode="AU" term="%22Stachelscheid+H%22">Stachelscheid H</searchLink><br /><searchLink fieldCode="AU" term="%22Khajavi+N%22">Khajavi N</searchLink><br /><searchLink fieldCode="AU" term="%22Didi+M%22">Didi M</searchLink><br /><searchLink fieldCode="AU" term="%22Brady+AF%22">Brady AF</searchLink><br /><searchLink fieldCode="AU" term="%22Blankenstein+O%22">Blankenstein O</searchLink><br /><searchLink fieldCode="AU" term="%22Procter+AM%22">Procter AM</searchLink><br /><searchLink fieldCode="AU" term="%22Dimitri+P%22">Dimitri P</searchLink><br /><searchLink fieldCode="AU" term="%22Wales+JKH%22">Wales JKH</searchLink><br /><searchLink fieldCode="AU" term="%22Ghirri+P%22">Ghirri P</searchLink><br /><searchLink fieldCode="AU" term="%22Knöbl+D%22">Knöbl D</searchLink><br /><searchLink fieldCode="AU" term="%22Strahm+B%22">Strahm B</searchLink><br /><searchLink fieldCode="AU" term="%22Erlacher+M%22">Erlacher M</searchLink><br /><searchLink fieldCode="AU" term="%22Wlodarski+MW%22">Wlodarski MW</searchLink><br /><searchLink fieldCode="AU" term="%22Chen+W%22">Chen W</searchLink><br /><searchLink fieldCode="AU" term="%22Kokai+GK%22">Kokai GK</searchLink><br /><searchLink fieldCode="AU" term="%22Anderson+G%22">Anderson G</searchLink><br /><searchLink fieldCode="AU" term="%22Morrogh+D%22">Morrogh D</searchLink><br /><searchLink fieldCode="AU" term="%22Moulding+DA%22">Moulding DA</searchLink><br /><searchLink fieldCode="AU" term="%22McKee+SA%22">McKee SA</searchLink><br /><searchLink fieldCode="AU" term="%22Niemeyer+CM%22">Niemeyer CM</searchLink><br /><searchLink fieldCode="AU" term="%22Grüters+A%22">Grüters A</searchLink><br /><searchLink fieldCode="AU" term="%22Achermann+JC%22">Achermann JC</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2017 May 01; Vol. 127 (5), pp. 1700-1713. <i>Date of Electronic Publication: </i>2017 Mar 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7802877 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1558-8238 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200219738%22">00219738 </searchLink><i>NLM ISO Abbreviation: </i>J Clin Invest <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28346228 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1172/JCI91913 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1700 Titles: – TitleFull: Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Buonocore F – PersonEntity: Name: NameFull: Kühnen P – PersonEntity: Name: NameFull: Suntharalingham JP – PersonEntity: Name: NameFull: Del Valle I – PersonEntity: Name: NameFull: Digweed M – PersonEntity: Name: NameFull: Stachelscheid H – PersonEntity: Name: NameFull: Khajavi N – PersonEntity: Name: NameFull: Didi M – PersonEntity: Name: NameFull: Brady AF – PersonEntity: Name: NameFull: Blankenstein O – PersonEntity: Name: NameFull: Procter AM – PersonEntity: Name: NameFull: Dimitri P – PersonEntity: Name: NameFull: Wales JKH – PersonEntity: Name: NameFull: Ghirri P – PersonEntity: Name: NameFull: Knöbl D – PersonEntity: Name: NameFull: Strahm B – PersonEntity: Name: NameFull: Erlacher M – PersonEntity: Name: NameFull: Wlodarski MW – PersonEntity: Name: NameFull: Chen W – PersonEntity: Name: NameFull: Kokai GK – PersonEntity: Name: NameFull: Anderson G – PersonEntity: Name: NameFull: Morrogh D – PersonEntity: Name: NameFull: Moulding DA – PersonEntity: Name: NameFull: McKee SA – PersonEntity: Name: NameFull: Niemeyer CM – PersonEntity: Name: NameFull: Grüters A – PersonEntity: Name: NameFull: Achermann JC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2017 May 01 Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1558-8238 Numbering: – Type: volume Value: 127 – Type: issue Value: 5 Titles: – TitleFull: The Journal of clinical investigation Type: main |
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