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  • 2023

    Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

    Garnier, N., Berghout, J., Zygmunt, A., Singh, D., Huang, K. A., Kantz, W., Blankart, C. R., Gillner, S., Zhao, J., Roettger, R., Saier, C., Kirschner, J., Schenk, J., Atkins, L., Ryan, N., Zarakowska, K., Zschüntzsch, J., Zuccolo, M., Müllenborn, M. & Man, Y. S. & 41 others, Goodman, L., Trad, M., Chalandon, A. S., Sansen, S., Martinez-Fresno, M., Badger, S., Walther van Olden, R., Rothmann, R., Lehner, P., Tschohl, C., Baillon, L., Gumus, G., Gross, E., Stefanov, R., Iskrov, G., Raycheva, R., Kostadinov, K., Mitova, E., Einhorn, M., Einhorn, Y., Schepers, J., Hübner, M., Alves, F., Iskandar, R., Mayer, R., Renieri, A., Piperkova, A., Gut, I., Beltran, S., Matthiesen, M. E., Poetz, M., Hansson, M., Trollmann, R., Agolini, E., Ottombrino, S., Novelli, A., Bertini, E., Selvatici, R., Farnè, M., Fortunato, F. & Ferlini, A., 2023, In: PLOS ONE. 18, 11, e0293503.

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