A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature.
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| Title: | A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature. |
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| Authors: | Javidi, Eileen1,2 (AUTHOR), Javidi, Simon1,2 (AUTHOR), Antaki, Fares1,2 (AUTHOR), Campeau, Philippe M.3 (AUTHOR), Ospina, Luis H.1,2 (AUTHOR) lhospina@gmail.com |
| Source: | Ophthalmic Genetics. Feb2025, Vol. 46 Issue 1, p92-100. 9p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 183684412 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Javidi%2C+Eileen%22">Javidi, Eileen</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Javidi%2C+Simon%22">Javidi, Simon</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Antaki%2C+Fares%22">Antaki, Fares</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campeau%2C+Philippe+M%2E%22">Campeau, Philippe M.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ospina%2C+Luis+H%2E%22">Ospina, Luis H.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> lhospina@gmail.com</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Feb2025, Vol. 46 Issue 1, p92-100. 9p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183684412 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2024.2438652 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 92 Titles: – TitleFull: A novel ZMIZ1 variant associated with NEDDFSA and new ocular features: case report and review of literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Javidi, Eileen – PersonEntity: Name: NameFull: Javidi, Simon – PersonEntity: Name: NameFull: Antaki, Fares – PersonEntity: Name: NameFull: Campeau, Philippe M. – PersonEntity: Name: NameFull: Ospina, Luis H. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: Feb2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 13816810 Numbering: – Type: volume Value: 46 – Type: issue Value: 1 Titles: – TitleFull: Ophthalmic Genetics Type: main |
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