Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.
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| Title: | Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood. |
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| Authors: | Keskinen S; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 10, 20521 Turku, Finland. Electronic address: stalan@utu.fi., Niemelä J; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: jussi.niemela@varha.fi., Koillinen H; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. Electronic address: hannele.koillinen@varha.fi., Boldt T; Department of Pediatric Cardiology, New Children's Hospital, Stenbäckinkatu 9, 00290 Helsinki, Finland. Electronic address: talvikki.boldt@hus.fi., Arola A; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: anita.arola@varha.fi. |
| Source: | Cardiovascular revascularization medicine : including molecular interventions [Cardiovasc Revasc Med] 2026 Feb; Vol. 83, pp. 73-78. Date of Electronic Publication: 2025 Apr 18. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 101238551 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0938 (Electronic) Linking ISSN: 18780938 NLM ISO Abbreviation: Cardiovasc Revasc Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40307100 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Keskinen+S%22">Keskinen S</searchLink>; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Tyks Laboratories, Genomics, Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 10, 20521 Turku, Finland. Electronic address: stalan@utu.fi.<br /><searchLink fieldCode="AU" term="%22Niemelä+J%22">Niemelä J</searchLink>; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: jussi.niemela@varha.fi.<br /><searchLink fieldCode="AU" term="%22Koillinen+H%22">Koillinen H</searchLink>; Department of Clinical Genetics, Turku University Hospital, Kiinamyllynkatu 4-8, 20521 Turku, Finland; Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. Electronic address: hannele.koillinen@varha.fi.<br /><searchLink fieldCode="AU" term="%22Boldt+T%22">Boldt T</searchLink>; Department of Pediatric Cardiology, New Children's Hospital, Stenbäckinkatu 9, 00290 Helsinki, Finland. Electronic address: talvikki.boldt@hus.fi.<br /><searchLink fieldCode="AU" term="%22Arola+A%22">Arola A</searchLink>; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Savitehtaankatu 5, 20521 Turku, Finland. Electronic address: anita.arola@varha.fi. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101238551%22">Cardiovascular revascularization medicine : including molecular interventions</searchLink> [Cardiovasc Revasc Med] 2026 Feb; Vol. 83, pp. 73-78. <i>Date of Electronic Publication: </i>2025 Apr 18. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101238551 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0938 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218780938%22">18780938 </searchLink><i>NLM ISO Abbreviation: </i>Cardiovasc Revasc Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40307100 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.carrev.2025.04.027 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 73 Titles: – TitleFull: Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Keskinen S – PersonEntity: Name: NameFull: Niemelä J – PersonEntity: Name: NameFull: Koillinen H – PersonEntity: Name: NameFull: Boldt T – PersonEntity: Name: NameFull: Arola A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2026 Feb Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1878-0938 Numbering: – Type: volume Value: 83 Titles: – TitleFull: Cardiovascular revascularization medicine : including molecular interventions Type: main |
| ResultId | 1 |
