Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.

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Bibliographic Details
Title: Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Authors: Quitmann, Christina M., Rust, Stephan, Reunert, Janine, Biskup, Saskia, Fiedler, Barbara, Marquardt, Thorsten
Source: Child neurology open 1/1/2021.
Journal Info: Publisher: Sage Publications Inc. ISSN: 2329-048X
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: EPTOC154321705
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Quitmann%2C+Christina+M%2E%22">Quitmann, Christina M.</searchLink><br /><searchLink fieldCode="AU" term="%22Rust%2C+Stephan%22">Rust, Stephan</searchLink><br /><searchLink fieldCode="AU" term="%22Reunert%2C+Janine%22">Reunert, Janine</searchLink><br /><searchLink fieldCode="AU" term="%22Biskup%2C+Saskia%22">Biskup, Saskia</searchLink><br /><searchLink fieldCode="AU" term="%22Fiedler%2C+Barbara%22">Fiedler, Barbara</searchLink><br /><searchLink fieldCode="AU" term="%22Marquardt%2C+Thorsten%22">Marquardt, Thorsten</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101691975%22">Child neurology open</searchLink> 1/1/2021.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Sage+Publications+Inc%2E%22">Sage Publications Inc. </searchLink><i>ISSN: </i>2329-048X
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=EPTOC154321705
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1177/2329048X211034969
    Languages:
      – Code: eng
        Text: English
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        StartPage: 1
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      – TitleFull: Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
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            NameFull: Quitmann, Christina M.
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            NameFull: Rust, Stephan
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            NameFull: Reunert, Janine
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            NameFull: Biskup, Saskia
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            NameFull: Fiedler, Barbara
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            NameFull: Marquardt, Thorsten
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          Dates:
            – D: 01
              M: 01
              Text: 1/1/2021
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-print
              Value: 2329-048X
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            – TitleFull: Child neurology open
              Type: main
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