RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Saved in:
Bibliographic Details
Title: RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39434505
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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