Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/114728
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dc.contributor.authorCorbett, M.en
dc.contributor.authorTurner, S.en
dc.contributor.authorGardner, A.en
dc.contributor.authorSilver, J.en
dc.contributor.authorStankovich, J.en
dc.contributor.authorLeventer, R.en
dc.contributor.authorDerry, C.en
dc.contributor.authorCarroll, R.en
dc.contributor.authorHa, T.en
dc.contributor.authorScheffer, I.en
dc.contributor.authorBahlo, M.en
dc.contributor.authorJackson, G.en
dc.contributor.authorMackey, D.en
dc.contributor.authorBerkovic, S.en
dc.contributor.authorGecz, J.en
dc.date.issued2017en
dc.identifier.citationEuropean Journal of Medical Genetics, 2017; 60(8):437-443en
dc.identifier.issn1769-7212en
dc.identifier.issn1878-0849en
dc.identifier.urihttp://hdl.handle.net/2440/114728-
dc.descriptionAvailable online 8 June 2017en
dc.description.abstractAbstract not availableen
dc.description.statementofresponsibilityMark A. Corbett, Samantha J. Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J. Leventer, Christopher P. Derry Renée Carroll, Thuong Ha, Ingrid E. Scheffer, Melanie Bahlo, Graeme D. Jackson, David A. Mackey, Samuel F. Berkovic, Jozef Geczen
dc.language.isoenen
dc.publisherElsevier Masson SASen
dc.rightsCrown Copyright © 2017 Published by Elsevier Masson SAS. All rights reserved.en
dc.subjectCOL18A1; Polymicrogyria; Epilepsy; Retina; Exome sequencing; Knobloch syndromeen
dc.titleFamilial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsen
dc.typeJournal articleen
dc.identifier.rmid0030071647en
dc.identifier.doi10.1016/j.ejmg.2017.06.002en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1054618en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1002098en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1104831en
dc.identifier.pubid357609-
pubs.library.collectionGenetics publicationsen
pubs.library.teamDS03en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]en
dc.identifier.orcidCarroll, R. [0000-0002-6979-3710]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Genetics publications

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