Publication:
The first case of dyssegmental dysplasia rolland-desbuquois type with a variant in hspg2

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dc.conference.dateJune 6–9, 2020
dc.conference.locationVirtual Conference
dc.conference.organizer53rd European Society of Human Genetics (ESHG) Conference
dc.contributor.coauthorKalayci, T.
dc.contributor.coauthorBalanda, N.
dc.contributor.coauthorFerreira, C. R.
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:52:44Z
dc.date.issued2020
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.doi10.1038/s41431-020-00739-z
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage237
dc.identifier.issn1018-4813
dc.identifier.linkhttps://www.nature.com/articles/s41431-020-00739-z
dc.identifier.pubmed33262485
dc.identifier.startpage237
dc.identifier.urihttps://hdl.handle.net/20.500.14288/14886
dc.identifier.urihttps://doi.org/10.1038/s41431-020-00739-z
dc.identifier.volume28
dc.identifier.wos000598482600438
dc.keywordsHSPG2
dc.keywordsSkeletal dysplasia
dc.keywordsDyssegmental Dysplasia Rolland-Desbuquois type
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.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleThe first case of dyssegmental dysplasia rolland-desbuquois type with a variant in hspg2
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
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