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Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder

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dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorsSerey-Gaut M., Essien-Umanah G. K., Makrythanasis P., Suri M., Taylor A. M., Sullivan J., Shashi V., Song X., Rosenfeld J. A., Cabrol C., et al.
dc.date.accessioned2023-05-08T08:07:31Z
dc.date.available2023-05-08T08:07:31Z
dc.date.issued2022-04-01
dc.identifier.citationSerey-Gaut M., Essien-Umanah G. K., Makrythanasis P., Suri M., Taylor A. M., Sullivan J., Shashi V., Song X., Rosenfeld J. A., Cabrol C., et al., "Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder", EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.30, sa.SUPPL 1, ss.62, 2022
dc.identifier.endpage62
dc.identifier.issn1018-4813
dc.identifier.issueSUPPL 1
dc.identifier.startpage62
dc.identifier.urihttps://hdl.handle.net/11424/289156
dc.identifier.volume30
dc.language.isoeng
dc.relation.ispartofEUROPEAN JOURNAL OF HUMAN GENETICS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectSitogenetik
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectMedical Genetics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectCytogenetic
dc.subjectNatural Sciences
dc.subjectBİYOKİMYA VE MOLEKÜLER BİYOLOJİ
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE KALITIM
dc.subjectBIOCHEMISTRY & MOLECULAR BIOLOGY
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectLife Sciences (LIFE)
dc.subjectGENETICS & HEREDITY
dc.subjectBiyokimya, Genetik ve Moleküler Biyoloji (çeşitli)
dc.subjectGenetik
dc.subjectKlinik Biyokimya
dc.subjectKanser Araştırmaları
dc.subjectMoleküler Biyoloji
dc.subjectİlaç Keşfi
dc.subjectYaşlanma
dc.subjectGenel Biyokimya, Genetik ve Moleküler Biyoloji
dc.subjectBiyokimya
dc.subjectYapısal Biyoloji
dc.subjectGenetik (klinik)
dc.subjectBiochemistry, Genetics and Molecular Biology (miscellaneous)
dc.subjectGenetics
dc.subjectClinical Biochemistry
dc.subjectCancer Research
dc.subjectMolecular Biology
dc.subjectDrug Discovery
dc.subjectAging
dc.subjectGeneral Biochemistry, Genetics and Molecular Biology
dc.subjectBiochemistry
dc.subjectStructural Biology
dc.subjectGenetics (clinical)
dc.titleBiallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder
dc.typearticle
dspace.entity.typePublication
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local.indexed.atWOS
relation.isAuthorOfPublication5f812a34-2d87-4040-b76f-0b90c1c695ae
relation.isAuthorOfPublication.latestForDiscovery5f812a34-2d87-4040-b76f-0b90c1c695ae

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