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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/114728
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dc.contributor.authorCorbett, M.-
dc.contributor.authorTurner, S.-
dc.contributor.authorGardner, A.-
dc.contributor.authorSilver, J.-
dc.contributor.authorStankovich, J.-
dc.contributor.authorLeventer, R.-
dc.contributor.authorDerry, C.-
dc.contributor.authorCarroll, R.-
dc.contributor.authorHa, T.-
dc.contributor.authorScheffer, I.-
dc.contributor.authorBahlo, M.-
dc.contributor.authorJackson, G.-
dc.contributor.authorMackey, D.-
dc.contributor.authorBerkovic, S.-
dc.contributor.authorGecz, J.-
dc.date.issued2017-
dc.identifier.citationEuropean Journal of Medical Genetics, 2017; 60(8):437-443-
dc.identifier.issn1769-7212-
dc.identifier.issn1878-0849-
dc.identifier.urihttp://hdl.handle.net/2440/114728-
dc.descriptionAvailable online 8 June 2017-
dc.description.abstractAbstract not available-
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 Gecz-
dc.language.isoen-
dc.publisherElsevier Masson SAS-
dc.rightsCrown Copyright © 2017 Published by Elsevier Masson SAS. All rights reserved.-
dc.source.urihttp://dx.doi.org/10.1016/j.ejmg.2017.06.002-
dc.subjectCOL18A1-
dc.subjectPolymicrogyria-
dc.subjectEpilepsy-
dc.subjectRetina-
dc.subjectExome sequencing-
dc.subjectKnobloch syndrome-
dc.titleFamilial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations-
dc.typeJournal article-
dc.identifier.doi10.1016/j.ejmg.2017.06.002-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1054618-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1002098-
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1104831-
pubs.publication-statusPublished-
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]-
dc.identifier.orcidGardner, A. [0009-0009-7321-1697]-
dc.identifier.orcidCarroll, R. [0000-0002-6979-3710]-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest 8
Genetics publications

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