View in EDS HTML Full Text PDF Full Text

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.

Saved in:
Bibliographic Details
Title: A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
Authors: Kim HH; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, gushkrs@gmail.com., Kim AR; Medical Research Institute, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea.; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea., Kim NKD; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea., Ahn SY; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Sung SI; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Park WS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Lee C; GENINUS Inc., Seoul, Republic of Korea., Chang YS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Park WY; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.; Department of Health Sciences and Technology, Samsung Advanced Institute of Health Science and Technology, Sungkyunkwan University, Seoul, Republic of Korea.; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.
Source: Neonatology [Neonatology] 2020; Vol. 117 (3), pp. 374-379. Date of Electronic Publication: 2020 Mar 03.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology 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: 32126561
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kim+HH%22">Kim HH</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, gushkrs@gmail.com.<br /><searchLink fieldCode="AU" term="%22Kim+AR%22">Kim AR</searchLink>; Medical Research Institute, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea.; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+NKD%22">Kim NKD</searchLink>; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ahn+SY%22">Ahn SY</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Sung+SI%22">Sung SI</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+WS%22">Park WS</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+C%22">Lee C</searchLink>; GENINUS Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Chang+YS%22">Chang YS</searchLink>; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Park+WY%22">Park WY</searchLink>; Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.; Department of Health Sciences and Technology, Samsung Advanced Institute of Health Science and Technology, Sungkyunkwan University, Seoul, Republic of Korea.; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon, Republic of Korea.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101286577%22">Neonatology</searchLink> [Neonatology] 2020; Vol. 117 (3), pp. 374-379. <i>Date of Electronic Publication: </i>2020 Mar 03.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Karger%22">Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101286577 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1661-7819 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216617800%22">16617800 </searchLink><i>NLM ISO Abbreviation: </i>Neonatology <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32126561
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1159/000506165
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 374
    Titles:
      – TitleFull: A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kim HH
      – PersonEntity:
          Name:
            NameFull: Kim AR
      – PersonEntity:
          Name:
            NameFull: Kim NKD
      – PersonEntity:
          Name:
            NameFull: Ahn SY
      – PersonEntity:
          Name:
            NameFull: Sung SI
      – PersonEntity:
          Name:
            NameFull: Park WS
      – PersonEntity:
          Name:
            NameFull: Lee C
      – PersonEntity:
          Name:
            NameFull: Chang YS
      – PersonEntity:
          Name:
            NameFull: Park WY
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2020
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1661-7819
          Numbering:
            – Type: volume
              Value: 117
            – Type: issue
              Value: 3
          Titles:
            – TitleFull: Neonatology
              Type: main
ResultId 1