GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
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| Title: | GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. |
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| Authors: | Škorić-Milosavljević D; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Tjong FVY; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Barc J; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Backx APCM; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands., Clur SB; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands., van Spaendonck-Zwarts K; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Oostra RJ; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Lahrouchi N; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Beekman L; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Mulder BJ; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Lodder EM; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Bezzina CR; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands., Postma AV; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1836-1845. Date of Electronic Publication: 2019 Jul 12. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31301121 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Škorić-Milosavljević+D%22">Škorić-Milosavljević D</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Tjong+FVY%22">Tjong FVY</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barc+J%22">Barc J</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Backx+APCM%22">Backx APCM</searchLink>; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Clur+SB%22">Clur SB</searchLink>; Department of Pediatric Cardiology, Amsterdam UMC, Emma Children's Hospital, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Spaendonck-Zwarts+K%22">van Spaendonck-Zwarts K</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oostra+RJ%22">Oostra RJ</searchLink>; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lahrouchi+N%22">Lahrouchi N</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Beekman+L%22">Beekman L</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bökenkamp+R%22">Bökenkamp R</searchLink>; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mulder+BJ%22">Mulder BJ</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bezzina+CR%22">Bezzina CR</searchLink>; Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Centre, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Postma+AV%22">Postma AV</searchLink>; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1836-1845. <i>Date of Electronic Publication: </i>2019 Jul 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31301121 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61294 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1836 Titles: – TitleFull: GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Škorić-Milosavljević D – PersonEntity: Name: NameFull: Tjong FVY – PersonEntity: Name: NameFull: Barc J – PersonEntity: Name: NameFull: Backx APCM – PersonEntity: Name: NameFull: Clur SB – PersonEntity: Name: NameFull: van Spaendonck-Zwarts K – PersonEntity: Name: NameFull: Oostra RJ – PersonEntity: Name: NameFull: Lahrouchi N – PersonEntity: Name: NameFull: Beekman L – PersonEntity: Name: NameFull: Bökenkamp R – PersonEntity: Name: NameFull: Barge-Schaapveld DQCM – PersonEntity: Name: NameFull: Mulder BJ – PersonEntity: Name: NameFull: Lodder EM – PersonEntity: Name: NameFull: Bezzina CR – PersonEntity: Name: NameFull: Postma AV IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 09 Text: 2019 Sep Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 179 – Type: issue Value: 9 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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