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RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.

dc.contributor.authorChan, Len_US
dc.contributor.authorSmith, Cen_US
dc.contributor.authorRead, Jen_US
dc.contributor.authorHall, Cen_US
dc.contributor.authorMaharaj, Aen_US
dc.contributor.authorRamirez, LMen_US
dc.contributor.authorQamar, Yen_US
dc.contributor.authorHughes, Cen_US
dc.contributor.authorClark, Aen_US
dc.contributor.authorMusa, Sen_US
dc.contributor.authorPrasad, Ren_US
dc.contributor.authorMetherell, Len_US
dc.date.accessioned2023-03-21T15:19:48Z
dc.date.issued2022-11-01en_US
dc.identifier.issn2472-1972en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/85130
dc.format.extenta140 - a141en_US
dc.publisherThe Endocrine Societyen_US
dc.relation.ispartofJournal of the Endocrine Societyen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subjectGeneticsen_US
dc.subjectClinical Researchen_US
dc.subjectHuman Genomeen_US
dc.subject2.1 Biological and endogenous factorsen_US
dc.subject2 Aetiologyen_US
dc.subjectMetabolic and endocrineen_US
dc.titleRF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.en_US
dc.typeArticle
dc.identifier.doi10.1210/jendso/bvac150.286en_US
pubs.issueSuppl 1en_US
pubs.notesNot knownen_US
pubs.volume6en_US
qmul.funderDeciphering mechanisms of disease associated with Sphingosine-1-phosphate lyase deficiency::Medical Research Councilen_US


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Attribution-NonCommercial-NoDerivs 3.0 United States
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 United States