Jiawei Zhao

Søgeresultater

• 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 flere, 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, I: PLOS ONE. 18, 11, e0293503.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  Åben adgang

  Fil

  • Diagnosis 100%
  • Rare Disease 100%
  • Newborn Screening 100%
  • Symptom 33%
  • Whole Genome Sequencing 16%
  42 Downloads (Pure)