Show simple item record

dc.contributor.authorSukalo, Men_US
dc.contributor.authorTilsen, Fen_US
dc.contributor.authorKayserili, Hen_US
dc.contributor.authorMueller, Den_US
dc.contributor.authorTueysuez, Ben_US
dc.contributor.authorRuddy, DMen_US
dc.contributor.authorWakeling, Een_US
dc.contributor.authorOrstavik, KHen_US
dc.contributor.authorSnape, KMen_US
dc.contributor.authorTrembath, Ren_US
dc.contributor.authorDe Smedt, Men_US
dc.contributor.authorvan der Aa, Nen_US
dc.contributor.authorSkalej, Men_US
dc.contributor.authorMundlos, Sen_US
dc.contributor.authorWuyts, Wen_US
dc.contributor.authorSouthgate, Len_US
dc.contributor.authorZenker, Men_US
dc.date.accessioned2016-04-07T09:19:13Z
dc.date.accessioned2016-07-21T11:12:40Z
dc.date.available2015-03-27en_US
dc.date.issued2015-06en_US
dc.date.submitted2016-07-13T16:41:59.948Z
dc.identifier.issn1059-7794en_US
dc.identifier.other10.1002/humu.22795
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/13595
dc.descriptionAuthor contacted for file.en_US
dc.format.extent593 - 598en_US
dc.language.isoenen_US
dc.relation.ispartofHUMAN MUTATIONen_US
dc.relation.replaceshttp://qmro.qmul.ac.uk/xmlui/handle/123456789/11698
dc.relation.replaces123456789/11698
dc.subjectAdams-Oliver syndromeen_US
dc.subjectAOSen_US
dc.subjectDOCK6en_US
dc.subjectbrain anomaliesen_US
dc.subjecteye anomaliesen_US
dc.titleDOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomaliesen_US
dc.typeArticle
dc.rights.holder© 2015 WILEY PERIODICALS, INC.
dc.rights.holderJohn Wiley and Sons
dc.identifier.doi10.1002/humu.22795en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000354623500004&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue6en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume36en_US


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record