TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature.
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| Title: | TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature. |
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| Authors: | Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Turkey., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.; Acibadem Maslak Hospital, Istanbul, Turkey., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Tumer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Mancilar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Sonmez FM; Karadeniz Technical University Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Private office, Child Neurology, Ankara, Turkey. |
| Source: | Molecular syndromology [Mol Syndromol] 2023 Dec; Vol. 14 (6), pp. 485-492. Date of Electronic Publication: 2023 Aug 07. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38058760 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Acibadem Ankara Tissue Typing Laboratory, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Yesilyurt+A%22">Yesilyurt A</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.; Acibadem Maslak Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Esen+FN%22">Esen FN</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tumer+S%22">Tumer S</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Mancilar+H%22">Mancilar H</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Sonmez+FM%22">Sonmez FM</searchLink>; Karadeniz Technical University Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Private office, Child Neurology, Ankara, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2023 Dec; Vol. 14 (6), pp. 485-492. <i>Date of Electronic Publication: </i>2023 Aug 07. – 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="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38058760 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000531439 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 485 Titles: – TitleFull: TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Uctepe E – PersonEntity: Name: NameFull: Yesilyurt A – PersonEntity: Name: NameFull: Esen FN – PersonEntity: Name: NameFull: Tumer S – PersonEntity: Name: NameFull: Mancilar H – PersonEntity: Name: NameFull: Sonmez FM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2023 Dec Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1661-8769 Numbering: – Type: volume Value: 14 – Type: issue Value: 6 Titles: – TitleFull: Molecular syndromology Type: main |
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