RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.
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| Title: | RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt. |
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| Authors: | Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, University of Antwerp, Antwerp, Belgium., Beysen D; Department of Paediatric Neurology, Antwerp University Hospital, Antwerp, Belgium., Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Department of Paediatric Neurology, Antwerp University Hospital, Antwerp, Belgium., De Rademaeker M; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Reyniers E; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Janssens K; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium. |
| Source: | Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 104-112. Date of Electronic Publication: 2024 Oct 21. |
| Publication Type: | Journal Article; Case Reports; Research Support, Non-U.S. Gov't |
| 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: 39434505 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rosenblum+J%22">Rosenblum J</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Beysen+D%22">Beysen D</searchLink>; Department of Paediatric Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Department of Paediatric Neurology, Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Rademaeker+M%22">De Rademaeker M</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Janssens+K%22">Janssens K</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 104-112. <i>Date of Electronic Publication: </i>2024 Oct 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports; Research Support, Non-U.S. Gov't – 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=39434505 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.14628 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 104 Titles: – TitleFull: RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rosenblum J – PersonEntity: Name: NameFull: Beysen D – PersonEntity: Name: NameFull: Jansen AC – PersonEntity: Name: NameFull: De Rademaeker M – PersonEntity: Name: NameFull: Reyniers E – PersonEntity: Name: NameFull: Janssens K – PersonEntity: Name: NameFull: Meuwissen M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2025 Jan Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 107 – Type: issue Value: 1 Titles: – TitleFull: Clinical genetics Type: main |
| ResultId | 1 |