View in EDS HTML Full Text PDF Full Text

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Saved in:
Bibliographic Details
Title: The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Authors: Rraku, Eleana1 (AUTHOR), Kerstjens-Frederikse, Wilhelmina S.1 (AUTHOR), Swertz, Morris A.1 (AUTHOR), Dijkhuizen, Trijnie1 (AUTHOR), van Ravenswaaij-Arts, Conny M. A.1,2 (AUTHOR) c.m.a.van.ravenswaaij@umcg.nl, Engwerda, Aafke1 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 3/24/2023, Vol. 18 Issue 1, p1-19. 19p.
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: 162678190
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Rraku%2C+Eleana%22">Rraku, Eleana</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kerstjens-Frederikse%2C+Wilhelmina+S%2E%22">Kerstjens-Frederikse, Wilhelmina S.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Swertz%2C+Morris+A%2E%22">Swertz, Morris A.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dijkhuizen%2C+Trijnie%22">Dijkhuizen, Trijnie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+Ravenswaaij-Arts%2C+Conny+M%2E+A%2E%22">van Ravenswaaij-Arts, Conny M. A.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> c.m.a.van.ravenswaaij@umcg.nl</i><br /><searchLink fieldCode="AR" term="%22Engwerda%2C+Aafke%22">Engwerda, Aafke</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 3/24/2023, Vol. 18 Issue 1, p1-19. 19p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=162678190
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-023-02670-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 19
        StartPage: 1
    Titles:
      – TitleFull: The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Rraku, Eleana
      – PersonEntity:
          Name:
            NameFull: Kerstjens-Frederikse, Wilhelmina S.
      – PersonEntity:
          Name:
            NameFull: Swertz, Morris A.
      – PersonEntity:
          Name:
            NameFull: Dijkhuizen, Trijnie
      – PersonEntity:
          Name:
            NameFull: van Ravenswaaij-Arts, Conny M. A.
      – PersonEntity:
          Name:
            NameFull: Engwerda, Aafke
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 24
              M: 03
              Text: 3/24/2023
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 17501172
          Numbering:
            – Type: volume
              Value: 18
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet Journal of Rare Diseases
              Type: main
ResultId 1