Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients.
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| Title: | Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients. |
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| Authors: | Celik VD; Department of Pediatrics, Başkent University Hospital, Cankaya, Turkey., Halici T; Department of Pediatrics, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey., Alomari O; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey. |
| Source: | Molecular syndromology [Mol Syndromol] 2026 Apr; Vol. 17 (2), pp. 123-134. Date of Electronic Publication: 2025 May 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: 41940405 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Celik+VD%22">Celik VD</searchLink>; Department of Pediatrics, Başkent University Hospital, Cankaya, Turkey.<br /><searchLink fieldCode="AU" term="%22Halici+T%22">Halici T</searchLink>; Department of Pediatrics, University of Health Sciences, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Alomari+O%22">Alomari O</searchLink>; Hamidiye International School of Medicine, University of Health Sciences, Istanbul, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2026 Apr; Vol. 17 (2), pp. 123-134. <i>Date of Electronic Publication: </i>2025 May 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=41940405 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000546683 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 123 Titles: – TitleFull: Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Celik VD – PersonEntity: Name: NameFull: Halici T – PersonEntity: Name: NameFull: Alomari O IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2026 Apr Type: published Y: 2026 Identifiers: – Type: issn-print Value: 1661-8769 Numbering: – Type: volume Value: 17 – Type: issue Value: 2 Titles: – TitleFull: Molecular syndromology Type: main |
| ResultId | 1 |
