Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
2051-5960
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome ; volume:2 ; number:1 ; day:5 ; month:12 ; year:2014 ; pages:1-11 ; date:12.2014
Acta Neuropathologica Communications ; 2, Heft 1 (5.12.2014), 1-11, 12.2014

Creator
McKie, Arthur B.
Contributor
Alsaedi, Atif
Vogt, Julie
Stuurman, Kyra E.
Weiss, Marjan M.
Shakeel, Hassan
Tee, Louise
Morgan, Neil V.
Nikkels, Peter G J.
van Haaften, Gijs
Park, Soo-Mi
van der Smagt, Jasper J.
Bugiani, Marianna
Maher, Eamonn R.
SpringerLink (Online service)

DOI
10.1186/s40478-014-0148-0
URN
urn:nbn:de:1111-201605067272
Rights
Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:59 AM CEST

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Associated

  • McKie, Arthur B.
  • Alsaedi, Atif
  • Vogt, Julie
  • Stuurman, Kyra E.
  • Weiss, Marjan M.
  • Shakeel, Hassan
  • Tee, Louise
  • Morgan, Neil V.
  • Nikkels, Peter G J.
  • van Haaften, Gijs
  • Park, Soo-Mi
  • van der Smagt, Jasper J.
  • Bugiani, Marianna
  • Maher, Eamonn R.
  • SpringerLink (Online service)

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