dc.contributor.author | Sukalo, M | en_US |
dc.contributor.author | Tilsen, F | en_US |
dc.contributor.author | Kayserili, H | en_US |
dc.contributor.author | Mueller, D | en_US |
dc.contributor.author | Tueysuez, B | en_US |
dc.contributor.author | Ruddy, DM | en_US |
dc.contributor.author | Wakeling, E | en_US |
dc.contributor.author | Orstavik, KH | en_US |
dc.contributor.author | Snape, KM | en_US |
dc.contributor.author | Trembath, R | en_US |
dc.contributor.author | De Smedt, M | en_US |
dc.contributor.author | van der Aa, N | en_US |
dc.contributor.author | Skalej, M | en_US |
dc.contributor.author | Mundlos, S | en_US |
dc.contributor.author | Wuyts, W | en_US |
dc.contributor.author | Southgate, L | en_US |
dc.contributor.author | Zenker, M | en_US |
dc.date.accessioned | 2016-04-07T09:19:13Z | |
dc.date.accessioned | 2016-07-21T11:12:40Z | |
dc.date.available | 2015-03-27 | en_US |
dc.date.issued | 2015-06 | en_US |
dc.date.submitted | 2016-07-13T16:41:59.948Z | |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.other | 10.1002/humu.22795 | |
dc.identifier.uri | http://qmro.qmul.ac.uk/xmlui/handle/123456789/13595 | |
dc.description | Author contacted for file. | en_US |
dc.format.extent | 593 - 598 | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | HUMAN MUTATION | en_US |
dc.relation.replaces | http://qmro.qmul.ac.uk/xmlui/handle/123456789/11698 | |
dc.relation.replaces | 123456789/11698 | |
dc.subject | Adams-Oliver syndrome | en_US |
dc.subject | AOS | en_US |
dc.subject | DOCK6 | en_US |
dc.subject | brain anomalies | en_US |
dc.subject | eye anomalies | en_US |
dc.title | DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies | en_US |
dc.type | Article | |
dc.rights.holder | © 2015 WILEY PERIODICALS, INC. | |
dc.rights.holder | John Wiley and Sons | |
dc.identifier.doi | 10.1002/humu.22795 | en_US |
pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000354623500004&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
pubs.issue | 6 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 36 | en_US |