View in EDS HTML Full Text PDF Full Text

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

Saved in:
Bibliographic Details
Title: Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
Authors: de Feraudy, Yvan1,2,3 (AUTHOR), Vandroux, Marie1 (AUTHOR), Romero, Norma Beatriz4 (AUTHOR), Schneider, Raphaël1 (AUTHOR), Saker, Safaa5 (AUTHOR), Boland, Anne6 (AUTHOR), Deleuze, Jean-François6 (AUTHOR), Biancalana, Valérie1,7 (AUTHOR), Böhm, Johann1 (AUTHOR), Laporte, Jocelyn1 (AUTHOR) jocelyn@igbmc.fr
Source: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.
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: 178354107
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22de+Feraudy%2C+Yvan%22">de Feraudy, Yvan</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vandroux%2C+Marie%22">Vandroux, Marie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Romero%2C+Norma+Beatriz%22">Romero, Norma Beatriz</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schneider%2C+Raphaël%22">Schneider, Raphaël</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Saker%2C+Safaa%22">Saker, Safaa</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Boland%2C+Anne%22">Boland, Anne</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Deleuze%2C+Jean-François%22">Deleuze, Jean-François</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Biancalana%2C+Valérie%22">Biancalana, Valérie</searchLink><relatesTo>1,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Böhm%2C+Johann%22">Böhm, Johann</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Laporte%2C+Jocelyn%22">Laporte, Jocelyn</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> jocelyn@igbmc.fr</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178354107
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-024-01353-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 15
        StartPage: 1
    Titles:
      – TitleFull: Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: de Feraudy, Yvan
      – PersonEntity:
          Name:
            NameFull: Vandroux, Marie
      – PersonEntity:
          Name:
            NameFull: Romero, Norma Beatriz
      – PersonEntity:
          Name:
            NameFull: Schneider, Raphaël
      – PersonEntity:
          Name:
            NameFull: Saker, Safaa
      – PersonEntity:
          Name:
            NameFull: Boland, Anne
      – PersonEntity:
          Name:
            NameFull: Deleuze, Jean-François
      – PersonEntity:
          Name:
            NameFull: Biancalana, Valérie
      – PersonEntity:
          Name:
            NameFull: Böhm, Johann
      – PersonEntity:
          Name:
            NameFull: Laporte, Jocelyn
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 07
              Text: 7/9/2024
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-print
              Value: 1756994X
          Numbering:
            – Type: volume
              Value: 16
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome Medicine
              Type: main
ResultId 1