View in EDS

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

Saved in:
Bibliographic Details
Title: Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
Authors: de Barcelos IP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Modesti NB; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sevagamoorthy A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa., Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa. Electronic address: adangl@chop.edu.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108346. Date of Electronic Publication: 2024 Feb 13.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 38368708
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22de+Barcelos+IP%22">de Barcelos IP</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Woidill+S%22">Woidill S</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Gavazzi+F%22">Gavazzi F</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Modesti+NB%22">Modesti NB</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Sevagamoorthy+A%22">Sevagamoorthy A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Vanderver+A%22">Vanderver A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa.<br /><searchLink fieldCode="AU" term="%22Adang+L%22">Adang L</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa. Electronic address: adangl@chop.edu.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229805456%22">Molecular genetics and metabolism</searchLink> [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108346. <i>Date of Electronic Publication: </i>2024 Feb 13.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9805456 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1096-7206 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210967192%22">10967192 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38368708
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ymgme.2024.108346
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 108346
    Titles:
      – TitleFull: Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: de Barcelos IP
      – PersonEntity:
          Name:
            NameFull: Woidill S
      – PersonEntity:
          Name:
            NameFull: Gavazzi F
      – PersonEntity:
          Name:
            NameFull: Modesti NB
      – PersonEntity:
          Name:
            NameFull: Sevagamoorthy A
      – PersonEntity:
          Name:
            NameFull: Vanderver A
      – PersonEntity:
          Name:
            NameFull: Adang L
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2024 May
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1096-7206
          Numbering:
            – Type: volume
              Value: 142
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Molecular genetics and metabolism
              Type: main
ResultId 1