Publication:
Homozygous NRP1 truncating variant in a multiplex family with conotruncal heart defects, lymphatic malformations and genitourinary anomalies

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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.coauthorKalayci, Tugba
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorKaya, Mert
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
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.studentonlypublicationNo
dc.description.studentpublicationYes
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage524
dc.identifier.issn1018-4813
dc.identifier.linkhttps://www.nature.com/articles/s41431-023-01338-4
dc.identifier.startpage524
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22324
dc.identifier.volume31
dc.identifier.wos001050507001626
dc.keywordsGenetics and heredity
dc.keywordsConotruncal heart defects
dc.keywordsLymphatic malformations
dc.keywordsNRP1
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.titleHomozygous NRP1 truncating variant in a multiplex family with conotruncal heart defects, lymphatic malformations and genitourinary anomalies
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorKaya, Mert
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