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  • 2021

    The KCNB1 phenotypic and genetic spectrum

    Reale, C., Fenger, C. D., Neu, A., Sukno, S., McKeown, S., Borovikov, A., Gorman, K., Trivisano, M., Lo Barco, T., Krey, I., Navarro, I. M. M., La Selva, L., Bayat, A., Bijlsma, E. K., Rokkjaer, M., Borggrafe, I., Sauders, C. J., Yis, U., Ram, D., Bierhals, T., & 39 othersFrancannet, C., Bonardi, C. M., Goldenberg, A., Dadali, E., Green, A., Cohen, R., Muhle, H., Beniczky, S., Massingham, L., Fusco, C., Specchio, N., Allen, N. M., Cantalupo, G., Sharkov, A., Helbig, I., Gerard, B., Lessel, D., Rubboli, G., Moeller, R. S., Gardella, E., McKeowns, S., Furia, F., Afawi, Z., Bernardina, B. D., Campbell, W., Fiedler, B., Fontana, E., Hall, A. S., Hoi-Hansen, C., Klein, K. M., King, M., Lynch, B., Lemke, J., Gaudda, A., Nikanorova, M., Rahner, M., Spagnoli, C., Banka, S. & Pendziwiat, M., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 222-223 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 2020

    Mowat-Wilson syndrome: growth charts

    Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cordelli, D., Cuturilo, G., Di Pisa, V., Garcia, J. D., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M., Iodice, A., & 30 othersNielsen, J., Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Moller, R., Muschke, P., Pantaleoni, C., Piscopo, C., Poch-Olive, M., Prpic, I., Purificacion, M., Raviglione, F., Ricci, E., Scarano, E., Smigiel, R., Tanteles, G., Tarani, L., Trimouille, A., Valera, E., Vergano, S., Writzl, K., Callewaert, B., Savasta, S., Street, M., Iughetti, L., Bernasconi, S., Rossi, P. G. & Garavelli, L., 1. Dec 2020, In: European Journal of Human Genetics. 28, Suppl. 1, p. 471-473 P11.61.A.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 2018

    PIGT-CDG, A Disorder of Glycosylphosphatidylinositol Anchors: Description of Six Novel Patients and Expansion of Clinical Characteristics

    Bayat, A., Knaus, A., Juul, A. W., Lascelles, K., Pendziwiat, M., Charzewska, A., Obersztyn, E., Hoffman-Zacharska, D., Larsen, L., Hjalgrim, H., Pal, D., Horn, D., Krawitz, P., Weber, Y. & Helbig, I., 1. Dec 2018, In: Epilepsia. 59, Suppl. 3, p. S109-S110

    Research output: Contribution to journalConference abstract in journalResearchpeer-review