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Suzanna Koudijs

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  • Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

    Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Celeste Simon, M., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Da Silva, R. P., Li, D., March, M., & 100 othersDiaz-Rosado, A., de Barcelos, I. P., Choa, Z. X., Lim, C. Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., van Haeringen, A., Snoeck-Streef, I., Chow, P., Hing, A., Graham, J. M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M. F., Kumar, A., Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., van Ierland, Y., Wilke, M., van Slegtenhorst, M., Koudijs, S., Chen, J. Y., Dredge, D., Pier, D., Wortmann, S., Kamsteeg, E. J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A. S., Weber, S., de la Fuente, R. P., del Pozo, J. S., Rosales, J. M. L., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Mau-Them, F. T., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A. M., Tan, T. Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T. G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F. J., Kuechler, A., Busk, Ø. L., Islam, L., Siedlik, J. A., Henderson, L. B., Juusola, J., Person, R., Schnur, R. E., Vitobello, A., Banka, S., Bhoj, E. J. & Stessman, H. A. F., 10 Mar 2023, In: Science advances. 9, 10, eade1463.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    1 Downloads (Pure)

  • Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants

    Catsman-Berrevoets, C. E., Koudijs, S. M., Buijze, M. S. J., de Laat, P. C. J., Pasmans, S. G. M. A. & Dremmen, M. H. G., May 2022, In: European Journal of Paediatric Neurology. 38, p. 66-72 7 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    2 Citations (Scopus)
    2 Downloads (Pure)