Showing 1 - 4 results of 4 for search 'Tugce Bozkurt', query time: 0.03s Refine Results
  1. 1
    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

    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 by Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman

    Published 2021-07-01
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  2. 2
    Methaemoglobinemia Developing Following Lidocain Use

    Methaemoglobinemia Developing Following Lidocain Use by Seher Erdoğan, Gürkan Atay, Tuğçe Bozkurt Mersin, Hüsniye İşcan

    Published 2020-11-01
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  3. 3
    Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

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

    Published 2024-04-01
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  4. 4
    The impact of the Turkish population variome on the genomic architecture of rare disease traits

    The impact of the Turkish population variome on the genomic architecture of rare disease traits by Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski

    Published 2024-01-01
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