Utility of Optical Genome Mapping in Repeat Disorders.
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| Title: | Utility of Optical Genome Mapping in Repeat Disorders. |
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| Authors: | Mutlu MB; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye., Karakaya T; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Türkiye., Çelebi HBG; Department of Medical Genetics, Balıkesir Ataturk City Hospital, Balıkesir, Türkiye., Duymuş F; Department of Medical Genetics, Konya City Hospital, Konya, Türkiye., Seyhan S; Laboratory of Genetics, Memorial Şişli Hospital, Istanbul, Türkiye., Yılmaz S; Department of Pediatrics, Division of Pediatric Neurology, Ege University Faculty of Medicine, Izmir, Türkiye., Yiş U; Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye., Atik T; Department of Pediatrics, Division of Pediatric Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Yetkin MF; Department of Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye., Gümüş H; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye. |
| Source: | Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 188-195. Date of Electronic Publication: 2024 Oct 22. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: 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: 39435674 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Utility of Optical Genome Mapping in Repeat Disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Mutlu+MB%22">Mutlu MB</searchLink>; Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Karakaya+T%22">Karakaya T</searchLink>; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun, Türkiye.<br /><searchLink fieldCode="AU" term="%22Çelebi+HBG%22">Çelebi HBG</searchLink>; Department of Medical Genetics, Balıkesir Ataturk City Hospital, Balıkesir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Duymuş+F%22">Duymuş F</searchLink>; Department of Medical Genetics, Konya City Hospital, Konya, Türkiye.<br /><searchLink fieldCode="AU" term="%22Seyhan+S%22">Seyhan S</searchLink>; Laboratory of Genetics, Memorial Şişli Hospital, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yılmaz+S%22">Yılmaz S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege University Faculty of Medicine, Izmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yiş+U%22">Yiş U</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Dokuz Eylül University Faculty of Medicine, Izmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Atik+T%22">Atik T</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Ege University Faculty of Medicine, Izmir, Türkiye.<br /><searchLink fieldCode="AU" term="%22Yetkin+MF%22">Yetkin MF</searchLink>; Department of Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye.<br /><searchLink fieldCode="AU" term="%22Gümüş+H%22">Gümüş H</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Erciyes University Faculty of Medicine, Kayseri, Türkiye. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 188-195. <i>Date of Electronic Publication: </i>2024 Oct 22. – 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="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39435674 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.14633 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 188 Titles: – TitleFull: Utility of Optical Genome Mapping in Repeat Disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Mutlu MB – PersonEntity: Name: NameFull: Karakaya T – PersonEntity: Name: NameFull: Çelebi HBG – PersonEntity: Name: NameFull: Duymuş F – PersonEntity: Name: NameFull: Seyhan S – PersonEntity: Name: NameFull: Yılmaz S – PersonEntity: Name: NameFull: Yiş U – PersonEntity: Name: NameFull: Atik T – PersonEntity: Name: NameFull: Yetkin MF – PersonEntity: Name: NameFull: Gümüş H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2025 Feb Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 107 – Type: issue Value: 2 Titles: – TitleFull: Clinical genetics Type: main |
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