Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant

per Hoehn, Thomas, Lukacs, Zoltan, Huckenbeck, Wolfgang, Torresani, Toni, Blankenstein, Oliver, Bounnack, Saysanasongkham
Publicat a J Trop Pediatr (2016)

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

per Léger, Juliane, Olivieri, Antonella, Donaldson, Malcolm, Torresani, Toni, Krude, Heiko, van Vliet, Guy, Polak, Michel, Butler, Gary
Publicat 2014

One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland

per Rueegg, Corina S, Kuehni, Claudia E, Gallati, Sabina, Baumgartner, Matthias, Torresani, Toni, Barben on behalf of the Swiss CF Screening Task Force, Juerg
Publicat 2013