Publication:
A fatal progeroid syndrome caused by a recessive RAF1 loss-of-function mutation

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dc.conference.dateJUN 11-14, 2022
dc.conference.locationVienna, Austria
dc.conference.organizer55th European-Society-of-Human-Genetics (ESHG) Conference
dc.contributor.coauthorWong, Samantha
dc.contributor.coauthorTan, Yu Xuan
dc.contributor.coauthorTan, Kiat Yi
dc.contributor.coauthorLoh, Abigail
dc.contributor.coauthorOzkan, Engin
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorBeillard, Nathalie Sonia Escande
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessN/A
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage521
dc.identifier.issn1018-4813
dc.identifier.linkhttps://www.nature.com/articles/s41431-023-01338-4
dc.identifier.startpage521
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22320
dc.identifier.wos001050507001618
dc.keywordsProgeria
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringer Nature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectMedicine
dc.titleA fatal progeroid syndrome caused by a recessive RAF1 loss-of-function mutation
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorReversade, Bruno
local.contributor.kuauthorBeillard, Nathalie Sonia Escande
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