A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.
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| Title: | A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome. |
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| Authors: | Gokalp S; Department of Pediatric Metabolic Disorders, Etlik City Hospital, Ankara, Turkey., Olgac A; Department of Pediatric Metabolic Disorders, Etlik City Hospital, Ankara, Turkey., Erdem Karapinar F; Department of Pediatric Metabolic Disorders, Van Regional Training And Research Hospital, Van, Turkey., Sezer A; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey. |
| Source: | Journal of child neurology [J Child Neurol] 2026 Aug 13, pp. 8830738261474029. Date of Electronic Publication: 2026 Aug 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42595372 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gokalp+S%22">Gokalp S</searchLink>; Department of Pediatric Metabolic Disorders, Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Olgac+A%22">Olgac A</searchLink>; Department of Pediatric Metabolic Disorders, Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Erdem+Karapinar+F%22">Erdem Karapinar F</searchLink>; Department of Pediatric Metabolic Disorders, Van Regional Training And Research Hospital, Van, Turkey.<br /><searchLink fieldCode="AU" term="%22Sezer+A%22">Sezer A</searchLink>; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228606714%22">Journal of child neurology</searchLink> [J Child Neurol] 2026 Aug 13, pp. 8830738261474029. <i>Date of Electronic Publication: </i>2026 Aug 13. – 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="%22Sage%22">Sage </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8606714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1708-8283 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208830738%22">08830738 </searchLink><i>NLM ISO Abbreviation: </i>J Child Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42595372 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1177/08830738261474029 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 8830738261474029 Titles: – TitleFull: A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gokalp S – PersonEntity: Name: NameFull: Olgac A – PersonEntity: Name: NameFull: Erdem Karapinar F – PersonEntity: Name: NameFull: Sezer A IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 08 Text: 2026 Aug 13 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1708-8283 Titles: – TitleFull: Journal of child neurology Type: main |
| ResultId | 1 |
