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

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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.departmentN/A
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.yokid7945
dc.date.accessioned2024-11-09T23:19:11Z
dc.date.issued2018
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume26
dc.identifier.doiN/A
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ1
dc.identifier.uriN/A
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10503
dc.identifier.wos489312600007
dc.keywordsN/A
dc.languageEnglish
dc.publisherNATURE PUBLISHING GROUP
dc.sourceEuropean Journal of Human Genetics
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.authorid0000-0003-0376-499X
local.contributor.kuauthorKayserili, Hülya

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