Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/92969
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dc.contributor.authorShaw, M.en
dc.contributor.authorYap, T.en
dc.contributor.authorHenden, L.en
dc.contributor.authorBahlo, M.en
dc.contributor.authorGardner, A.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorHaan, E.en
dc.contributor.authorChristie, L.en
dc.contributor.authorHackett, A.en
dc.contributor.authorGecz, J.en
dc.date.issued2015en
dc.identifier.citationEuropean Journal of Medical Genetics, 2015; 58(6-7):364-368en
dc.identifier.issn1769-7212en
dc.identifier.issn1878-0849en
dc.identifier.urihttp://hdl.handle.net/2440/92969-
dc.description.abstractAbstract not availableen
dc.description.statementofresponsibilityMarie Shawa, Tzu Ying Yap, Lyndal Hendend, Melanie Bahlod, Alison Gardnera, Vera M. Kalscheuerg, Eric Haanb, Louise Christiei, Anna Hacketti, Jozef Geczen
dc.language.isoenen
dc.publisherElsevieren
dc.rights© 2015 Elsevier Masson SAS.en
dc.subjectL1CAM; X-linked intellectual disability; Identical by descent; Massively parallel sequencing; X-chromosome exomeen
dc.titleIdentical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeen
dc.typeJournal articleen
dc.identifier.rmid0030028215en
dc.identifier.doi10.1016/j.ejmg.2015.04.004en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1008077en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1054618en
dc.relation.granthttp://purl.org/au-research/grants/arc/FT100100764en
dc.identifier.pubid185451-
pubs.library.collectionMedicine publicationsen
pubs.library.teamDS12en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
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