Pubblicazioni

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Renard, D.; Taieb, G.; Garibaldi, M.; Maues De Paula, A.; Bernard, R.; Lagha, N.; Cristofari, G.; Vovan, C.; Chaix, C.; Levy, N.; Khau Van Kien, P.; Sacconi, S.

Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

2015 - PRENATAL DIAGNOSIS

D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn