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

Simple item page
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.kuauthorKayserili, Hülya
dc.contributor.kuauthorReversade, Bruno
dc.contributor.kuauthorBeillard, Nathalie Sonia Escande
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.indexedbyWoS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22320
dc.identifier.wos1050507001618
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.languageen
dc.publisherSpringernature
dc.sourceEuropean Journal of Human Genetics
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
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2KUH (Koç University Hospital)
relation.isOrgUnitOfPublicationf91d21f0-6b13-46ce-939a-db68e4c8d2ab
relation.isOrgUnitOfPublication.latestForDiscoveryf91d21f0-6b13-46ce-939a-db68e4c8d2ab

Files

Collections

Publications without Fulltext