A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.
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| Title: | A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene. |
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| Authors: | Uctepe E; Acibadem Ankara Tissue Typing Laboratory, Ankara, Turkey., Kandemir N; Medical Genetics, Kayseri City Training and Research Hospital, Kayseri, Turkey., Bir FD; Medical Genetics, Ankara Etlik City Training and Research Hospital, Ankara, Turkey., Karhan AN; Pediatric Gastroenterology, Hepatology and Nutrition, Ankara Etlik City Training and Research Hospital, Ankara, Turkey., Tumer S; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Ondes EB; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Konuskan B; Department of Pediatric Neurology, Ankara Etlik City Training and Research Hospital, Ankara, Turkey., Yesilyurt A; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.; Acıbadem Maslak Hospital, Istanbul, Turkey. |
| Source: | Molecular syndromology [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 251-256. Date of Electronic Publication: 2024 Jan 30. |
| 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: 38841330 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene. – 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="%22Kandemir+N%22">Kandemir N</searchLink>; Medical Genetics, Kayseri City Training and Research Hospital, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Bir+FD%22">Bir FD</searchLink>; Medical Genetics, Ankara Etlik City Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Karhan+AN%22">Karhan AN</searchLink>; Pediatric Gastroenterology, Hepatology and Nutrition, Ankara Etlik City Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Tumer+S%22">Tumer S</searchLink>; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Ondes+EB%22">Ondes EB</searchLink>; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Konuskan+B%22">Konuskan B</searchLink>; Department of Pediatric Neurology, Ankara Etlik City Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Yesilyurt+A%22">Yesilyurt A</searchLink>; Acıbadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.; Acıbadem Maslak Hospital, Istanbul, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2024 Jun; Vol. 15 (3), pp. 251-256. <i>Date of Electronic Publication: </i>2024 Jan 30. – 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=38841330 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000536072 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 251 Titles: – TitleFull: A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Uctepe E – PersonEntity: Name: NameFull: Kandemir N – PersonEntity: Name: NameFull: Bir FD – PersonEntity: Name: NameFull: Karhan AN – PersonEntity: Name: NameFull: Tumer S – PersonEntity: Name: NameFull: Ondes EB – PersonEntity: Name: NameFull: Konuskan B – PersonEntity: Name: NameFull: Yesilyurt A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2024 Jun Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1661-8769 Numbering: – Type: volume Value: 15 – Type: issue Value: 3 Titles: – TitleFull: Molecular syndromology Type: main |
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