View in EDS

O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.

Saved in:
Bibliographic Details
Title: O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Authors: Roos, A.1,2,3 (AUTHOR), van der Ven, P.4 (AUTHOR), Alrohaif, H.5 (AUTHOR), Kölbel, H.1 (AUTHOR), Heil, L.4 (AUTHOR), Della Marina, A.1 (AUTHOR), Weis, J.6 (AUTHOR), Töpf, A.5 (AUTHOR), Vorgerd, M.2 (AUTHOR), Schara-Schmidt, U.1 (AUTHOR), Gangfuss, A.1 (AUTHOR), Evangelista, T.7 (AUTHOR), Hentschel, A.8 (AUTHOR), Grüneboom, A.8 (AUTHOR), Fuerst, D.4 (AUTHOR), Kuechler, A.9 (AUTHOR), Tzschach, A.10 (AUTHOR), Depienne, C.9 (AUTHOR), Lochmüller, H.3 (AUTHOR)
Source: Neuromuscular Disorders. 2023 Supplement 1, Vol. 33, pS127-S127. 1p.
Database: Academic Search Ultimate
FullText Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 172304753
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Roos%2C+A%2E%22">Roos, A.</searchLink><relatesTo>1,2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+der+Ven%2C+P%2E%22">van der Ven, P.</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alrohaif%2C+H%2E%22">Alrohaif, H.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kölbel%2C+H%2E%22">Kölbel, H.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Heil%2C+L%2E%22">Heil, L.</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Della+Marina%2C+A%2E%22">Della Marina, A.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Weis%2C+J%2E%22">Weis, J.</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Töpf%2C+A%2E%22">Töpf, A.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vorgerd%2C+M%2E%22">Vorgerd, M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Schara-Schmidt%2C+U%2E%22">Schara-Schmidt, U.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gangfuss%2C+A%2E%22">Gangfuss, A.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Evangelista%2C+T%2E%22">Evangelista, T.</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hentschel%2C+A%2E%22">Hentschel, A.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Grüneboom%2C+A%2E%22">Grüneboom, A.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fuerst%2C+D%2E%22">Fuerst, D.</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kuechler%2C+A%2E%22">Kuechler, A.</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tzschach%2C+A%2E%22">Tzschach, A.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Depienne%2C+C%2E%22">Depienne, C.</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lochmüller%2C+H%2E%22">Lochmüller, H.</searchLink><relatesTo>3</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Neuromuscular+Disorders%22">Neuromuscular Disorders</searchLink>. 2023 Supplement 1, Vol. 33, pS127-S127. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=172304753
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.nmd.2023.07.258
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 1
        StartPage: S127
    Titles:
      – TitleFull: O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Roos, A.
      – PersonEntity:
          Name:
            NameFull: van der Ven, P.
      – PersonEntity:
          Name:
            NameFull: Alrohaif, H.
      – PersonEntity:
          Name:
            NameFull: Kölbel, H.
      – PersonEntity:
          Name:
            NameFull: Heil, L.
      – PersonEntity:
          Name:
            NameFull: Della Marina, A.
      – PersonEntity:
          Name:
            NameFull: Weis, J.
      – PersonEntity:
          Name:
            NameFull: Töpf, A.
      – PersonEntity:
          Name:
            NameFull: Vorgerd, M.
      – PersonEntity:
          Name:
            NameFull: Schara-Schmidt, U.
      – PersonEntity:
          Name:
            NameFull: Gangfuss, A.
      – PersonEntity:
          Name:
            NameFull: Evangelista, T.
      – PersonEntity:
          Name:
            NameFull: Hentschel, A.
      – PersonEntity:
          Name:
            NameFull: Grüneboom, A.
      – PersonEntity:
          Name:
            NameFull: Fuerst, D.
      – PersonEntity:
          Name:
            NameFull: Kuechler, A.
      – PersonEntity:
          Name:
            NameFull: Tzschach, A.
      – PersonEntity:
          Name:
            NameFull: Depienne, C.
      – PersonEntity:
          Name:
            NameFull: Lochmüller, H.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 10
              Text: 2023 Supplement 1
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 09608966
          Numbering:
            – Type: volume
              Value: 33
          Titles:
            – TitleFull: Neuromuscular Disorders
              Type: main
ResultId 1