View in EDS HTML Full Text PDF Full Text

MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.

Saved in:
Bibliographic Details
Title: MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.
Authors: Assker, Mohamad M.1 (AUTHOR) Alfapet2@hotmail.com, Al Haidar, Mahdia2 (AUTHOR), Faris, Marwan3 (AUTHOR), Emara, Ahmed3 (AUTHOR), Al Abrach, Yousef4 (AUTHOR), Al Shehhi, Maryam5 (AUTHOR)
Source: Egyptian Journal of Medical Human Genetics. 1/3/2025, Vol. 26 Issue 1, p1-6. 6p.
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: 182073993
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Assker%2C+Mohamad+M%2E%22">Assker, Mohamad M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Alfapet2@hotmail.com</i><br /><searchLink fieldCode="AR" term="%22Al+Haidar%2C+Mahdia%22">Al Haidar, Mahdia</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Faris%2C+Marwan%22">Faris, Marwan</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Emara%2C+Ahmed%22">Emara, Ahmed</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al+Abrach%2C+Yousef%22">Al Abrach, Yousef</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al+Shehhi%2C+Maryam%22">Al Shehhi, Maryam</searchLink><relatesTo>5</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 1/3/2025, Vol. 26 Issue 1, p1-6. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=182073993
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s43042-024-00630-2
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 1
    Titles:
      – TitleFull: MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Assker, Mohamad M.
      – PersonEntity:
          Name:
            NameFull: Al Haidar, Mahdia
      – PersonEntity:
          Name:
            NameFull: Faris, Marwan
      – PersonEntity:
          Name:
            NameFull: Emara, Ahmed
      – PersonEntity:
          Name:
            NameFull: Al Abrach, Yousef
      – PersonEntity:
          Name:
            NameFull: Al Shehhi, Maryam
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 01
              Text: 1/3/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 11108630
          Numbering:
            – Type: volume
              Value: 26
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Egyptian Journal of Medical Human Genetics
              Type: main
ResultId 1