View in EDS HTML Full Text PDF Full Text

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.

Saved in:
Bibliographic Details
Title: A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Authors: Tan, Ene‐Choo1,2 (AUTHOR) tan.ene.choo@kkh.com.sg, Chia, Shi Yun2,3 (AUTHOR), Rafi'ee, Khadijah1 (AUTHOR), Lee, Shan Xian4 (AUTHOR) lee.shan.xian@singhealth.com.sg, Kwek, Andrew Boon Eu5 (AUTHOR), Tan, Sze Hwa6 (AUTHOR), Ng, Victor Weng Leong6 (AUTHOR), Wei, Heming1 (AUTHOR), Koo, Stephanie1 (AUTHOR), Koh, Ai Ling2,7 (AUTHOR), Koh, Mark Jean‐Aan2,3 (AUTHOR)
Source: Molecular Genetics & Genomic Medicine. Jan2022, Vol. 10 Issue 1, p1-8. 8p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 154961056
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Tan%2C+Ene‐Choo%22">Tan, Ene‐Choo</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> tan.ene.choo@kkh.com.sg</i><br /><searchLink fieldCode="AR" term="%22Chia%2C+Shi+Yun%22">Chia, Shi Yun</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rafi'ee%2C+Khadijah%22">Rafi'ee, Khadijah</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Shan+Xian%22">Lee, Shan Xian</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> lee.shan.xian@singhealth.com.sg</i><br /><searchLink fieldCode="AR" term="%22Kwek%2C+Andrew+Boon+Eu%22">Kwek, Andrew Boon Eu</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tan%2C+Sze+Hwa%22">Tan, Sze Hwa</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ng%2C+Victor+Weng+Leong%22">Ng, Victor Weng Leong</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wei%2C+Heming%22">Wei, Heming</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koo%2C+Stephanie%22">Koo, Stephanie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koh%2C+Ai+Ling%22">Koh, Ai Ling</searchLink><relatesTo>2,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koh%2C+Mark+Jean‐Aan%22">Koh, Mark Jean‐Aan</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Jan2022, Vol. 10 Issue 1, p1-8. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=154961056
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/mgg3.1848
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 8
        StartPage: 1
    Titles:
      – TitleFull: A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tan, Ene‐Choo
      – PersonEntity:
          Name:
            NameFull: Chia, Shi Yun
      – PersonEntity:
          Name:
            NameFull: Rafi'ee, Khadijah
      – PersonEntity:
          Name:
            NameFull: Lee, Shan Xian
      – PersonEntity:
          Name:
            NameFull: Kwek, Andrew Boon Eu
      – PersonEntity:
          Name:
            NameFull: Tan, Sze Hwa
      – PersonEntity:
          Name:
            NameFull: Ng, Victor Weng Leong
      – PersonEntity:
          Name:
            NameFull: Wei, Heming
      – PersonEntity:
          Name:
            NameFull: Koo, Stephanie
      – PersonEntity:
          Name:
            NameFull: Koh, Ai Ling
      – PersonEntity:
          Name:
            NameFull: Koh, Mark Jean‐Aan
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: Jan2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 23249269
          Numbering:
            – Type: volume
              Value: 10
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Molecular Genetics & Genomic Medicine
              Type: main
ResultId 1