Publication:
Three Nance Horan Syndrome families from Turkey; three different approaches for molecular diagnosis

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dc.conference.dateAugust 28 to August 31, 2021
dc.conference.locationVirtual Conference
dc.conference.organizer54th European Society of Human Genetics (ESHG)
dc.contributor.coauthorGüven, Yeliz
dc.contributor.coauthorAksakal, Şermin Dice
dc.contributor.coauthorKalaycı, Tuğba
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorSaraçoğlu, Hilal Pırıl
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:50:26Z
dc.date.issued2022
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/s41431-021-01026-1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage351
dc.identifier.issn1018-4813
dc.identifier.issueSUPPL 1
dc.identifier.linkhttps://www.nature.com/articles/s41431-021-01026-1
dc.identifier.pubmed35393538
dc.identifier.startpage351
dc.identifier.urihttps://doi.org/10.1038/s41431-021-01026-1
dc.identifier.urihttps://hdl.handle.net/20.500.14288/14547
dc.identifier.volume30
dc.identifier.wos000779367701389
dc.keywordsNance Horan syndrome
dc.keywordsGenetics and heredity
dc.keywordsGenetic diseases
dc.language.isoeng
dc.publisherSpringernature
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.titleThree Nance Horan Syndrome families from Turkey; three different approaches for molecular diagnosis
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorSaraçoğlu, Hilal Pırıl
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorHülya
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