Publication: Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder
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2022-04-01
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Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Sitogenetik, Temel Bilimler, Medicine, Health Sciences, Internal Medicine Sciences, Medical Genetics, Life Sciences, Molecular Biology and Genetics, Cytogenetic, Natural Sciences, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), GENETİK VE KALITIM, BIOCHEMISTRY & MOLECULAR BIOLOGY, MOLECULAR BIOLOGY & GENETICS, Life Sciences (LIFE), GENETICS & HEREDITY, Biyokimya, Genetik ve Moleküler Biyoloji (çeşitli), Genetik, Klinik Biyokimya, Kanser Araştırmaları, Moleküler Biyoloji, İlaç Keşfi, Yaşlanma, Genel Biyokimya, Genetik ve Moleküler Biyoloji, Biyokimya, Yapısal Biyoloji, Genetik (klinik), Biochemistry, Genetics and Molecular Biology (miscellaneous), Genetics, Clinical Biochemistry, Cancer Research, Molecular Biology, Drug Discovery, Aging, General Biochemistry, Genetics and Molecular Biology, Biochemistry, Structural Biology, Genetics (clinical)
Citation
Serey-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