Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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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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| Items | – Name: Title Label: Title Group: Ti Data: Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. – Name: Author Label: Authors Group: Au 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> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101691975%22">Child neurology open</searchLink> 1/1/2021. – Name: TitleSource Label: Journal Info Group: Src 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: BibEntity: Identifiers: – Type: doi Value: 10.1177/2329048X211034969 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1 Titles: – TitleFull: Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Quitmann, Christina M. – PersonEntity: Name: NameFull: Rust, Stephan – PersonEntity: Name: NameFull: Reunert, Janine – PersonEntity: Name: NameFull: Biskup, Saskia – PersonEntity: Name: NameFull: Fiedler, Barbara – PersonEntity: Name: NameFull: Marquardt, Thorsten IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 1/1/2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 2329-048X Titles: – TitleFull: Child neurology open Type: main |
| ResultId | 1 |