Publication:
Undiagnosed arthrogryposis: further expanding the molecular and phenotypic spectrum

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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.coauthorTurgut, G. Tutku
dc.contributor.coauthorSarac-Sivrikoz, Tugba
dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorToksoy, Guven
dc.contributor.coauthorKaraman, Birsen
dc.contributor.coauthorGulec, Cagri
dc.contributor.coauthorSayin, Gozde Yesil
dc.contributor.coauthorBasaran, Seher
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:20Z
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.sponsorshipGrants: This project is granted by the Scientific Research Projects Coordination Unit of Istanbul University (Project ID 37765).
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage101
dc.identifier.grantno37765
dc.identifier.issn1018-4813
dc.identifier.linkhttps://www.nature.com/articles/s41431-023-01339-3
dc.identifier.startpage101
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22328
dc.identifier.volume31
dc.identifier.wos001050507000237
dc.keywordsExome sequencing
dc.keywordsGenetics and heredity
dc.keywordsArthrogryposis
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.subjectBiochemistry and molecular biology
dc.titleUndiagnosed arthrogryposis: further expanding the molecular and phenotypic spectrum
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorKayserili, Hülya
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