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A noval KIF1A mutation associated with NESCAV syndrome

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dc.contributor.authorFaryap, Kadriye
dc.contributor.authorAkalin, Ayse Busra
dc.contributor.authorEroglu Simsek, Elif
dc.contributor.authorAkalin, Ibrahim
dc.date.accessioned2026-06-27T15:13:17Z
dc.date.issued2024
dc.identifier.eissn1476-5438
dc.identifier.endpage1103
dc.identifier.issn1018-4813
dc.identifier.startpage1103
dc.identifier.urihttps://hdl.handle.net/20.500.14981/69122
dc.identifier.volume32
dc.identifier.wos001421430500835
dc.language.isoeng
dc.publisherSPRINGERNATURE
dc.relation.conference57th Conference of the European-Society-of-Human-Genetics (ESHG)
dc.relation.ispartofEUROPEAN JOURNAL OF HUMAN GENETICS
dc.subjectBiochemistry & Molecular Biology
dc.subjectGenetics & Heredity
dc.titleA noval KIF1A mutation associated with NESCAV syndrome
dc.typeMeeting Abstract
dspace.entity.typePublication
local.import.sourceWOS

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