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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
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. (2009). Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Human mutation, 30(9), E866 - E879. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21073
