Publication:
Recessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia

Simple item page
dc.contributor.coauthorIturrate, Asier
dc.contributor.coauthorRivera-Barahona, Ana
dc.contributor.coauthorFlores, Carmen-Lisset
dc.contributor.coauthorAotaify, Ghada
dc.contributor.coauthorElhossini, Rasha
dc.contributor.coauthorPerez-Sanz, Marina L.
dc.contributor.coauthorNevado, Julian
dc.contributor.coauthorTenorio, Jair
dc.contributor.coauthorCarlos Trivino, Juan
dc.contributor.coauthorGarcia-Gonzalo, Francesc R.
dc.contributor.coauthorPiceci-Sparascio, Francesca
dc.contributor.coauthorDe Luca, Alessandro
dc.contributor.coauthorMartinez, Leopoldo
dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorLapunzina, Pablo
dc.contributor.coauthorAglan, Mona
dc.contributor.coauthorAbdalla, Ebtesam
dc.contributor.coauthorRuiz-Perez, Victor
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:21Z
dc.date.issued2024
dc.description.abstractBAKILACAK
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.sponsorshipSpanish Ministry of Science and Innovation.
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionPublished Version
dc.identifier.eissn1476-5438
dc.identifier.grantnoN/A
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22337
dc.identifier.volume32
dc.identifier.wos001147414902486
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringernature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessKoç University Institutional Repository
dc.rightsN/A
dc.rights.uriN/A
dc.subjectMedicine
dc.titleRecessive mutations in SCNM1 are a new cause of orofaciodigital syndrome due to errors in minor intron splicing affecting primary cilia
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorAltunoğlu, Umut
relation.isOrgUnitOfPublicationd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

Files

Collections

Publications without Fulltext