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Approaching mosaicism for the genomic odyssey of rare and undiagnosed diseases

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dc.contributor.advisorKayserili, Hülya
dc.contributor.kuauthorÇepni, Ece
dc.contributor.programCellukar and Molecular Medicine
dc.contributor.refereeKaya, Mehmet
dc.contributor.refereeİşeri, Sibel Aylin Uğur
dc.contributor.refereeUyguner, Zehra Oya
dc.contributor.refereeBokhoven, Hans van
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.coverage.spatialİstanbul
dc.date.accessioned2026-09-10T10:13:09Z
dc.date.issued2025
dc.description.fulltextYes
dc.format.extentxi, 189 leaves :; illustrations ;; 30 cm.
dc.identifier.embargoNo
dc.identifier.endpage200
dc.identifier.filenameinventorynoD_2025_082_GSHS
dc.identifier.urihttps://hdl.handle.net/20.500.14288/35187
dc.identifier.yoktezid977303
dc.identifier.yoktezlinkhttps://tez.yok.gov.tr/UlusalTezMerkezi/TezGoster?key=V-oEQd0LkkqRGCXNzJWCTb4cPwZDGbKY02_qtgzEbb2sUcyaPW0BuVt6DYnMdvxR
dc.keywordsMosaicism, Somatic mosaicism, Postzygotic variants, PI3K-AKT-mTOR pathway, Medical genetics, Clinical genomics
dc.keywordsAnahtar kelimler: Mozaisizm, Somatik mozaisizm, Postzigotik değişimler, PI3K-AKT-mTOR yolağı, Tıbbi genetik, Klinik genomik.;
dc.languageeng
dc.publisherKoç University
dc.relation.collectionKoç University Theses & Dissertations Collection
dc.rightsrestrictedAccess
dc.rights.copyrightsnote© All Rights Reserved. Accessible to Koç University Affiliated Users Only!
dc.subjectGenetic diseases
dc.titleApproaching mosaicism for the genomic odyssey of rare and undiagnosed diseases
dc.title.alternativeNadir ve tanısı konulamamış hastalıkların genomik yolculuğunda mozaisizme yaklaşım
dc.typeDissertation
dspace.entity.typePublication
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relation.isAdvisorOfThesis.latestForDiscovery914f6e8a-b5f5-4989-aad1-bdf7d8272cc6
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