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Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; ... (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS ONE, 18(11), e0293503. Public Library of Science 10.1371/journal.pone.0293503
Spinelli, Marialuigia; Sica, Carmine; Dallapiccola, Bruno; Novelli, Antonio; Di Meglio, Letizia; Martinelli, Pasquale (2015). The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review. Case Reports in obstetrics and gynecology, 2015, p. 830108. Hindawi 10.1155/2015/830108
