Publication:
De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome

Simple item page
dc.conference.dateMAY 27-30, 2017
dc.conference.locationCopenhagen, Denmark
dc.conference.organizer50th European-Society-of-Human-Genetics (ESHG) Conference
dc.contributor.coauthorGordon, C. T.
dc.contributor.coauthorXue, S.
dc.contributor.coauthorYigit, G.
dc.contributor.coauthorFilali, H.
dc.contributor.coauthorChen, K.
dc.contributor.coauthorRosin, N.
dc.contributor.coauthorYoshiura, K.
dc.contributor.coauthorOufadem, M.
dc.contributor.coauthorBeck, T.
dc.contributor.coauthorDion, C.
dc.contributor.coauthorSefiani, A.
dc.contributor.coauthorMurphy, J.
dc.contributor.coauthorChatdokmaiprai, C.
dc.contributor.coauthorHillmer, A.
dc.contributor.coauthorWattanasirichaigoon, D.
dc.contributor.coauthorLyonnet, S.
dc.contributor.coauthorMagdinier, F.
dc.contributor.coauthorJaved, A.
dc.contributor.coauthorBlewitt, M.
dc.contributor.coauthorAmiel, J.
dc.contributor.coauthorWollnik, B.
dc.contributor.coauthorReversade, B.
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:19:11Z
dc.date.issued2018
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessNO
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.endpage6
dc.identifier.issn1018-4813
dc.identifier.issueSupplement: S
dc.identifier.startpage6
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10503
dc.identifier.volume26
dc.identifier.wos000489312600007
dc.keywordsBosma arhinia microphthalmia syndrome
dc.keywordsGain of function mutation
dc.keywordsGenetic variation
dc.keywordsGenes
dc.keywordsSMCHD1
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.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleDe novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

Files

Collections

Publications without Fulltext