1. Adelaide Research & Scholarship
  2. Schools and Disciplines
  3. School of Paediatrics & Reproductive Health
  4. Paediatrics
  5. Paediatrics publications
Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/98699
Citations
Scopus Web of Science® Altmetric
?
?
Full metadata record
DC FieldValueLanguage
dc.contributor.authorGrozeva, D.-
dc.contributor.authorCarss, K.-
dc.contributor.authorSpasic-Boskovic, O.-
dc.contributor.authorTejada, M.-
dc.contributor.authorGecz, J.-
dc.contributor.authorShaw, M.-
dc.contributor.authorCorbett, M.-
dc.contributor.authorHaan, E.-
dc.contributor.authorThompson, E.-
dc.contributor.authorFriend, K.-
dc.contributor.authorHussain, Z.-
dc.contributor.authorHackett, A.-
dc.contributor.authorField, M.-
dc.contributor.authorRenieri, A.-
dc.contributor.authorStevenson, R.-
dc.contributor.authorSchwartz, C.-
dc.contributor.authorFloyd, J.-
dc.contributor.authorBentham, J.-
dc.contributor.authorCosgrove, C.-
dc.contributor.authorKeavney, B.-
dc.contributor.authoret al.-
dc.date.issued2015-
dc.identifier.citationHuman Mutation, 2015; 36(12):1197-1204-
dc.identifier.issn1059-7794-
dc.identifier.issn1098-1004-
dc.identifier.urihttp://hdl.handle.net/2440/98699-
dc.descriptionArticle first published online: 30 SEP 2015-
dc.description.abstractAbstract not available-
dc.description.statementofresponsibilityDetelina Grozeva ... Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson ... et al.-
dc.language.isoen-
dc.publisherWiley-
dc.rights© 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.-
dc.source.urihttp://dx.doi.org/10.1002/humu.22901-
dc.subjectintellectual disability;next-generation sequencing;Mendelian disease;developmental delay-
dc.titleTargeted next-generation sequencing analysis of 1,000 individuals with intellectual disability-
dc.typeJournal article-
dc.identifier.doi10.1002/humu.22901-
pubs.publication-statusPublished-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]-
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
Appears in Collections:Aurora harvest 3
Paediatrics publications

Files in This Item:
File Description SizeFormat 
hdl_98699.pdfPublished version315.44 kBAdobe PDFView/Open
Show simple item record


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