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Unraveling the complexity of Phelan-McDermid syndrome: a multifaceted exploration of clinical and molecular/cytogenetic findings in four cases

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dc.conference.dateJUN 01-04, 2024
dc.conference.locationBerlin, GERMANY
dc.contributor.coauthorYucesoy, Mehmet Akif
dc.contributor.coauthorAkbas, Sinan
dc.contributor.coauthorMemis, Gulhanim
dc.contributor.coauthorKonur, Esma Nur
dc.contributor.coauthorDurmaz, Durmus
dc.contributor.coauthorKaraman, Volkan
dc.contributor.coauthorSenturk, Leyli
dc.contributor.coauthorSengenc, Esma
dc.contributor.coauthorGenc, Hulya Maras
dc.contributor.coauthorYildiz, Edibe Pempegul
dc.contributor.coauthorDeniz, Adnan
dc.contributor.coauthorKara, Bulent
dc.contributor.coauthorAslanger, Ayca Dilruba
dc.contributor.coauthorSelcuk, Bilge Ozsait
dc.contributor.coauthorSayin, Gozde Yesil
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.coauthorKaraman, Birsen
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2026-01-09T06:07:06Z
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.sponsoredbyTubitakEuN/A
dc.identifier.eissn1476-5438
dc.identifier.embargoNo
dc.identifier.endpage1123
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.scopusN/A
dc.identifier.startpage1123
dc.identifier.urihttps://hdl.handle.net/20.500.14288/31907
dc.identifier.volume32
dc.identifier.wos001421430500893
dc.language.isoeng
dc.publisherSpringerNature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.ispartof57th Conference of the European-Society-of-Human-Genetics (ESHG)
dc.relation.openaccessNo
dc.rightsCopyrighted
dc.subjectBiochemistry and molecular biology
dc.subjectGenetics and heredity
dc.titleUnraveling the complexity of Phelan-McDermid syndrome: a multifaceted exploration of clinical and molecular/cytogenetic findings in four cases
dc.typeMeeting Abstract
dspace.entity.typePublication
person.familyNameAltunoğlu
person.givenNameUmut
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