Publication:
Ophthalmic features in SPA-8 with a homozygous missense variant in the homeobox domain of the NKX6-2

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dc.contributor.coauthorŞener, Hidayet
dc.contributor.coauthorSevim, Duygu Gülmez
dc.contributor.coauthorGültekin, Murat
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Sciences and Engineering
dc.contributor.facultymemberYes
dc.contributor.kuauthorŞimşir, Gülşah
dc.contributor.kuauthorBaşak, Ayşe Nazlı
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF SCIENCES AND ENGINEERING
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:44:44Z
dc.date.issued2022
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyTR Dizin
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.WoSQuartileN/A
dc.identifier.doi10.4274/tnd.2022.00483
dc.identifier.eissn1309-2545
dc.identifier.embargoN/A
dc.identifier.endpage58
dc.identifier.issn1301-062X
dc.identifier.issue1
dc.identifier.scopus2-s2.0-85127840559
dc.identifier.startpage57
dc.identifier.urihttps://doi.org/10.4274/tnd.2022.00483
dc.identifier.urihttps://hdl.handle.net/20.500.14288/13714
dc.identifier.volume28
dc.identifier.wos000787344900012
dc.keywordsElectroretinogram
dc.keywordsVisual evoked potential
dc.keywordsSpastic ataxia type 8
dc.keywordsNKX6-2 gene mutation
dc.language.isoeng
dc.publisherGalenos Publishing House
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofTurkish Journal of Neurologyen
dc.relation.ispartofTürk Nöroloji Dergisitr
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectNeurology
dc.subjectOphthalmology
dc.subjectMedical genetics
dc.subjectSpastic ataxia
dc.subjectNeurodegenerative disorders
dc.subjectNeuro-ophthalmology
dc.titleOphthalmic features in SPA-8 with a homozygous missense variant in the homeobox domain of the NKX6-2
dc.title.alternativeNKX6-2’nin homeobox alanında homozigot yanlış anlamlı varyantı olan SPA-8’deki oftalmik özellikleritr
dc.typeOther
dspace.entity.typePublication
local.contributor.kuauthorŞimşir, Gülşah
local.contributor.kuauthorBaşak, Ayşe Nazlı
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