Pubblicazioni

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

2019 - NEW ENGLAND JOURNAL OF MEDICINE

Apellaniz-Ruiz, Maria; Segni, Maria; Kettwig, Matthias; GlÃ¼er, Sylvia; Pelletier, Dylan; Nguyen, Van-Hung; Wagener, Rabea; Lopez, Maria Cristina; Muchantef, Karl; Bouron-Dal Soglio, DorothÃ©e; Sabbaghian, Nelly; Wu, Mona K; Zannella, Stefano; Fabian, Marc R; Siebert, Reiner; Menke, Jan; Priest, John R; Foulkes, William D

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

2019 - HUMAN MUTATION

Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Mahmoudi, H.; Karamzadeh, R.; Kariminejad, A.; Huang, J.; Li, L.; Jannace, T. F.; Fortina, P.; Zeinali, S.; White, T. W.; Uitto, J.