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'학술논문' 에서의 검색결과 2건 | List 1~10

  • 1 .
    PIGN encephalopathy: Characterizing the epileptology
    저자
    by Allan Bayat; Guillem de Valles‐Ibáñez; Manuela Pendziwiat; Alexej Knaus; Kerstin Alt, et al. 
    소스
    Epilepsia, 63(4), 974-991. Wiley
    Epilepsia
    r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
    instname
    Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
  • 7 .
    Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
    저자
    by Konrad Platzer; Christina Fenger; Ilona Krey; Elena Gardella; Kaja Kristine Selmer, et al. 
    소스
    Brain
    Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain, vol. 145, no. 4, awab391, pp. 1299–1309 . https://doi.org/10.1093/brain/awab391
    Ahring, P K, Liao, V W Y, Gardella, E, Johannesen, K M, Krey, I, Selmer, K K, Stadheim, B F, Davis, H, Peinhardt, C, Koko, M, Coorg, R K, Syrbe, S, Bertsche, A, Santiago-Sim, T, Diemer, T, Fenger, C D, Platzer, K, Eichler, E E, Lerche, H, Lemke, J R, Chebib, M & Møller, R S 2022, ' Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy ', Brain : a journal of neurology, vol. 145, no. 4, pp. 1299-1309 . https://doi.org/10.1093/brain/awab391
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