Pubblicazioni

PRICKLE1-related early onset epileptic encephalopathy

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Mastrangelo, M; Tolve, M; Martinelli, M; DI NOIA, S; Parrini, E; Leuzzi, V

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.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia.

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Castori, M; Pascolini, G; Parisi, V; Sana, Me; Novelli, A; NÃ¼rnberg, P; Iascone, M; Grammatico, Paola