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'학술논문' 에서의 검색결과 2건 | List 1~10

  • 7 .
    Assessing the landscape of STXBP1-related disorders in 534 individuals
    저자
    by Julie Xian; Shridhar Parthasarathy; Sarah M Ruggiero; Ganna Balagura; Eryn Fitch, et al. 
    소스
    Brain, 145(5), 1668-1683. Oxford University Press
    Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
    Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
    BRAIN
    r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    instname
    Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
    Brain
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