Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/95510
Citations
Scopus Web of Science® Altmetric
?
?
Full metadata record
DC FieldValueLanguage
dc.contributor.authorRavenscroft, G.-
dc.contributor.authorThompson, E.-
dc.contributor.authorTodd, E.-
dc.contributor.authorYau, K.-
dc.contributor.authorKresoje, N.-
dc.contributor.authorSivadorai, P.-
dc.contributor.authorFriend, K.-
dc.contributor.authorRiley, K.-
dc.contributor.authorManton, N.-
dc.contributor.authorBlumbergs, P.-
dc.contributor.authorFietz, M.-
dc.contributor.authorDuff, R.-
dc.contributor.authorDavis, M.-
dc.contributor.authorAllcock, R.-
dc.contributor.authorLaing, N.-
dc.date.issued2013-
dc.identifier.citationNeuromuscular Disorders, 2013; 23(2):165-169-
dc.identifier.issn0960-8966-
dc.identifier.issn1873-2364-
dc.identifier.urihttp://hdl.handle.net/2440/95510-
dc.description.abstractAbstract not available-
dc.description.statementofresponsibilityGianina Ravenscroft, Elizabeth M. Thompson, Emily J. Todd, Kyle S. Yau, Nina Kresoje, Padma Sivadorai, Kathryn Friend, Kate Riley, Nicholas D. Manton, Peter Blumbergs, Michael Fietz, Rachael M. Duff, Mark R. Davis, Richard J. Allcock, Nigel G. Laing-
dc.language.isoen-
dc.publisherElsevier-
dc.rightsCopyright © 2012 Elsevier B.V. Published by Elsevier B.V. All rights reserved.-
dc.subjectPterygia-
dc.subjectWhole exome sequencing-
dc.subjectGlycogen storage disease-
dc.subjectGBE1-
dc.subjectFoetal akinesia-
dc.titleWhole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations-
dc.typeJournal article-
dc.identifier.doi10.1016/j.nmd.2012.11.005-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1035955-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1002147-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1022707-
pubs.publication-statusPublished-
Appears in Collections:Aurora harvest 7
Medicine publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.