Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

por Strand, Janne, Gul, Kiran Aftab, Erichsen, Hans Christian, Lundman, Emma, Berge, Mona C., Trømborg, Anette K., Sørgjerd, Linda K., Ytre-Arne, Mari, Hogner, Silje, Halsne, Ruth, Gaup, Hege Junita, Osnes, Liv T., Kro, Grete A. B., Sorte, Hanne S., Mørkrid, Lars, Rowe, Alexander D., Tangeraas, Trine, Jørgensen, Jens V., Alme, Charlotte, Bjørndalen, Trude E. H., Rønnestad, Arild E., Lang, Astri M., Rootwelt, Terje, Buechner, Jochen, Øverland, Torstein, Abrahamsen, Tore G., Pettersen, Rolf D., Stray-Pedersen, Asbjørg
Publicado 2020

Can untreated PKU patients escape from intellectual disability? A systematic review

por van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Publicado 2018