Koolen-de Vries syndrome: Two patients with 17q21.31 microdeletion and de novo KANSL1 variant

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dc.authorid0000-0003-0872-3898
dc.contributor.authorCetin, Sena
dc.contributor.authorKaratoprak, Elif Yuksel
dc.contributor.authorOzkan, Ceren Melis
dc.contributor.authorÖzen, Filiz
dc.contributor.authorGulec, Elif Yilmaz
dc.date.accessioned2025-05-10T19:27:37Z
dc.date.issued2024
dc.departmentİstanbul Medeniyet Üniversitesi
dc.description56th Annual Conference of the European-Society-of-Human-Genetics (ESHG) -- JUN 10-13, 2023 -- Glasgow, SCOTLAND
dc.description.abstract[No abstract available]
dc.description.sponsorshipEuropean Soc Human Genetics
dc.identifier.endpage192
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.scopusqualityQ1
dc.identifier.startpage192
dc.identifier.urihttps://hdl.handle.net/20.500.14730/6983
dc.identifier.volume32
dc.identifier.wosWOS:001147414900521
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.language.isoen
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250302
dc.titleKoolen-de Vries syndrome: Two patients with 17q21.31 microdeletion and de novo KANSL1 variant
dc.typeConference Object

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