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The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome

dc.contributor.authorCottrell, Een_US
dc.contributor.authorLadha, Ten_US
dc.contributor.authorBorysewicz-Sanczyk, Hen_US
dc.contributor.authorSawicka, Ben_US
dc.contributor.authorSavage, MOen_US
dc.contributor.authorBossowski, ATen_US
dc.contributor.authorStorr, HLen_US
dc.date.accessioned2020-10-13T08:14:57Z
dc.date.available2020-09-23en_US
dc.date.issued2020-09-29en_US
dc.identifier.issn0391-4097en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/67538
dc.descriptionThis is a post-peer-review, pre-copyedit version of an article published in Journal of Endocrinological Investigation  The final authenticated version is available online at: https://doi.org/10.1007/s40618-020-01433-zen_US
dc.relation.ispartofJOURNAL OF ENDOCRINOLOGICAL INVESTIGATIONen_US
dc.titleThe value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndromeen_US
dc.typeArticle
dc.identifier.doi10.1007/s40618-020-01433-zen_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000573750500001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US


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