View in EDS

Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.

Saved in:
Bibliographic Details
Title: Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.
Authors: Aljassar RW; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Shen Q; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia., Albash B; Department of Genetics, Ghanima Al Ghanem Center, Ministry of Health, Kuwait City, Kuwait., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia., Ebrahim MA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
Source: Genetics in medicine open [Genet Med Open] 2024 Jul 16; Vol. 2, pp. 101868. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39669639
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Aljassar+RW%22">Aljassar RW</searchLink>; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Shen+Q%22">Shen Q</searchLink>; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Department of Genetics, Ghanima Al Ghanem Center, Ministry of Health, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Vandenberg+JI%22">Vandenberg JI</searchLink>; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ebrahim+MA%22">Ebrahim MA</searchLink>; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ng+CA%22">Ng CA</searchLink>; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, NSW, Australia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229918734281906676%22">Genetics in medicine open</searchLink> [Genet Med Open] 2024 Jul 16; Vol. 2, pp. 101868. <i>Date of Electronic Publication: </i>2024 Jul 16 (<i>Print Publication: </i>2024).
– 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="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9918734281906676 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2949-7744 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2229497744%22">29497744 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med Open <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39669639
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gimo.2024.101868
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101868
    Titles:
      – TitleFull: Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Aljassar RW
      – PersonEntity:
          Name:
            NameFull: Shen Q
      – PersonEntity:
          Name:
            NameFull: Albash B
      – PersonEntity:
          Name:
            NameFull: Vandenberg JI
      – PersonEntity:
          Name:
            NameFull: Ebrahim MA
      – PersonEntity:
          Name:
            NameFull: Ng CA
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 16
              M: 07
              Text: 2024 Jul 16
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2949-7744
          Numbering:
            – Type: volume
              Value: 2
          Titles:
            – TitleFull: Genetics in medicine open
              Type: main
ResultId 1