dc.contributor.author | Buysse, K | en_US |
dc.contributor.author | Riemersma, M | en_US |
dc.contributor.author | Powell, G | en_US |
dc.contributor.author | van Reeuwijk, J | en_US |
dc.contributor.author | Chitayat, D | en_US |
dc.contributor.author | Roscioli, T | en_US |
dc.contributor.author | Kamsteeg, E-J | en_US |
dc.contributor.author | van den Elzen, C | en_US |
dc.contributor.author | van Beusekom, E | en_US |
dc.contributor.author | Blaser, S | en_US |
dc.contributor.author | Babul-Hirji, R | en_US |
dc.contributor.author | Halliday, W | en_US |
dc.contributor.author | Wright, GJ | en_US |
dc.contributor.author | Stemple, DL | en_US |
dc.contributor.author | Lin, Y-Y | en_US |
dc.contributor.author | Lefeber, DJ | en_US |
dc.contributor.author | van Bokhoven, H | en_US |
dc.date.accessioned | 2016-07-15T10:56:27Z | |
dc.date.issued | 2013-05-01 | en_US |
dc.date.submitted | 2016-05-09T10:50:03.515Z | |
dc.identifier.issn | 0964-6906 | en_US |
dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/13509 | |
dc.format.extent | 1746 - 1754 | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | HUMAN MOLECULAR GENETICS | en_US |
dc.rights | CC-BY | |
dc.title | Missense mutations in-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause WalkerWarburg syndrome | en_US |
dc.type | Article | |
dc.rights.holder | © 2013 The Author | |
dc.identifier.doi | 10.1093/hmg/ddt021 | en_US |
pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000317431100005&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
pubs.issue | 9 | en_US |
pubs.notes | No embargo | en_US |
pubs.notes | Initial upload not completed by author, 09/05/2016; completed on behalf of the author, 14/07/2016, SM | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 22 | en_US |