Publication:
Working towards the ERN ITHACA international consensus statement on the diagnosis and management in rubinstein-taybi syndrome

Simple item page
dc.conference.dateJUN 10-13, 2023
dc.conference.locationGlasgow, SCOTLAND
dc.contributor.coauthorLacombe, Didier
dc.contributor.coauthorBloch-Zupan, Agnes
dc.contributor.coauthorBredrup, Cecilie
dc.contributor.coauthorCooper, Edward
dc.contributor.coauthorHouge, Sofia Douzgou
dc.contributor.coauthorGarcia-Minaur, Sixto
dc.contributor.coauthorLarizza, Lidia
dc.contributor.coauthorLopez Gonzalez, Vanesa
dc.contributor.coauthorMenke, Leonie
dc.contributor.coauthorMilani, Donatella
dc.contributor.coauthorSaettini, Francesco
dc.contributor.coauthorStevens, Cathy
dc.contributor.coauthorTooke, Lloyd
dc.contributor.coauthorvan der Zee, Jill
dc.contributor.coauthorvan Genderen, Maria
dc.contributor.coauthorVan Gils, Julien
dc.contributor.coauthorWaite, Jane
dc.contributor.coauthorAdrien, Jean-Louis
dc.contributor.coauthorBartsch, Oliver
dc.contributor.coauthorBitoun, Pierre
dc.contributor.coauthorBouts, Antonia
dc.contributor.coauthorMaria Cueto-Gonzalez, Anna
dc.contributor.coauthorDominguez-Garrido, Elena
dc.contributor.coauthorDuijkers, Floor
dc.contributor.coauthorFergelot, Patricia
dc.contributor.coauthorHalstead, Elizabeth
dc.contributor.coauthorHuisman, Sylvia
dc.contributor.coauthorMeossi, Camilla
dc.contributor.coauthorMullins, Jo
dc.contributor.coauthorNikkel, Sarah
dc.contributor.coauthorOliver, Chris
dc.contributor.coauthorPrada, Elisabetta
dc.contributor.coauthorRiddle, Ilka
dc.contributor.coauthorRodriguez-Fonseca, Cristina
dc.contributor.coauthorRodriguez Pena, Rebecca
dc.contributor.coauthorRussell, Janet Dell'Oro
dc.contributor.coauthorSaba, Alicia
dc.contributor.coauthorSantos, Fernando
dc.contributor.coauthorSimpson, Brittany
dc.contributor.coauthorSmith, David
dc.contributor.coauthorStevens, Markus
dc.contributor.coauthorSzakszon, Katalin
dc.contributor.coauthorTaupiac, Emmanuelle
dc.contributor.coauthorValenzuela Palafoll, Irene
dc.contributor.coauthorvan der Kaay, Danielle
dc.contributor.coauthorvan Wijk, Michiel
dc.contributor.coauthorVyshka, Klea
dc.contributor.coauthorWiley, Susan
dc.contributor.coauthorHennekam, Raoul
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2026-01-09T06:07:07Z
dc.date.available2026-01-09
dc.date.issued2024
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuEU
dc.description.sponsorshipEU4Health Programme, 101085231
dc.identifier.eissn1476-5438
dc.identifier.embargoNo
dc.identifier.endpage742
dc.identifier.issn1018-4813
dc.identifier.quartileQ1
dc.identifier.scopusN/A
dc.identifier.startpage740
dc.identifier.urihttps://hdl.handle.net/20.500.14288/31911
dc.identifier.volume32
dc.identifier.wos001147414903462
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.ispartof56th Annual Conference of the European-Society-of-Human-Genetics (ESHG)
dc.relation.openaccessNo
dc.rightsCopyrighted
dc.subjectBiochemistry and molecular biology
dc.subjectGenetics and heredity
dc.titleWorking towards the ERN ITHACA international consensus statement on the diagnosis and management in rubinstein-taybi syndrome
dc.typeMeeting Abstract
dspace.entity.typePublication
person.familyNameKayserili
person.givenNameHülya
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