Publication:
Expanding the phenotypic spectrum of Alkuraya-Kucinskas syndrome: defining the mildest end

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dc.conference.dateJune 6–9, 2020
dc.conference.locationVirtual
dc.conference.organizer53rd European Society of Human Genetics (ESHG) Conference
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorÇepni, Kardelen
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.date.accessioned2024-11-09T23:54:24Z
dc.date.issued2020
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyPubMed
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationYes
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.doi10.1038/s41431-020-00741-5
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage453
dc.identifier.issn1018-4813
dc.identifier.issueSupplement: 1
dc.identifier.linkhttps://www.nature.com/articles/s41431-020-00739-z
dc.identifier.pubmed33262486
dc.identifier.startpage453
dc.identifier.urihttps://hdl.handle.net/20.500.14288/15170
dc.identifier.urihttps://doi.org/10.1038/s41431-020-00741-5
dc.identifier.volume28
dc.identifier.wos000598482601396
dc.keywordsBiochemistry and molecular biology
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.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleExpanding the phenotypic spectrum of Alkuraya-Kucinskas syndrome: defining the mildest end
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorÇepni, Kardelen
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