Resultats de la cerca - Tugce Bozkurt

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  1. 1
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    Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report per Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman

    Publicat 2021
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  2. 2
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    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders per Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir

    Publicat 2024
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  3. 3
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    Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders per Tugce Bozkurt‑Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban‑Akdemir

    Publicat 2024
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