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Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

dc.contributor.authorTooze, RSen_US
dc.contributor.authorHyder, Zen_US
dc.contributor.authorCalpena, Een_US
dc.contributor.authorPei, Yen_US
dc.contributor.authorTwigg, SRFen_US
dc.contributor.authorCilliers, Den_US
dc.contributor.authorMorton, JEVen_US
dc.contributor.authorMcCann, Een_US
dc.contributor.authorWeber, Aen_US
dc.contributor.authorWilson, LCen_US
dc.contributor.authorNeed, Aen_US
dc.contributor.authorBond, Aen_US
dc.contributor.authorTavares, ALTen_US
dc.contributor.authorBrittain, Hen_US
dc.contributor.authorThomas, Een_US
dc.contributor.authorHill, SLen_US
dc.contributor.authorDeans, ZCen_US
dc.contributor.authorBoardman-Pretty, Fen_US
dc.contributor.authorCaulfield, Men_US
dc.contributor.authorScott, RHen_US
dc.contributor.authorWilkie, AOMen_US
dc.date.accessioned2022-08-25T09:50:19Z
dc.date.issued2022en_US
dc.identifier.issn1018-4813en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/80152
dc.format.extent51 - 52en_US
dc.titleEvaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosisen_US
dc.typeConference Proceeding
pubs.author-urlhttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367700131&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issueSUPPL 1en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume30en_US
qmul.funderNIHR Barts BRC::National Institute for Health and Care Researchen_US


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