Group by: Date | Creators
Number of items: 4.
Boccone, Loredana and Dessì, Valentina and Serra, Gigliola and Zibordi, Federica and Loudianos, Georgios (2008) Bannayan–Riley–Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. American Journal of Medical Genetics Part A, Vol. 146A (2), p. 257-260. eISSN 1552-4833. Article.
Londin, Eric R. and Adijanto, Jeffrey and Philp, Nancy and Novelli, Antonio and Vitale, Emilia and Perria, Chiara and Serra, Gigliola and Alesi, Viola and Surrey, Saul and Fortina, Paolo (2014) Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. American Journal of Medical Genetics Part A, Vol. 164 (9), p. 2294-2299. ISSN 1552-4825. eISSN 1552-4833. Article.
Marangi, Giuseppe and Ricciardi, Stefania and Orteschi, Daniela and Lattante, Serena and Murdolo, Marina and Dallapiccola, Bruno and Biscione, Chiara and Lecce, Rosetta and Chiurazzi, Pietro and Romano, Corrado and Greco, Donatella and Pettinato, Rosa and Sorge, Giovanni and Pantaleoni, Chiara and Alfei, Enrico and Toldo, Irene and Magnani, Cinzia and Bonanni, Paolo and Martinez, Federica and Serra, Gigliola and Battaglia, Domenica Immacolata and Lettori, Donatella and Vasco, Gessica and Baroncini, Anna and Daolio, Cecilia and Zollino, Marcella (2011) The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. American Journal of Medical Genetics Part A, Vol. 155 (7), p. 1536-1545. ISSN 1552-4825. eISSN 1552-4833. Article.
Silengo, Margherita and Rulli, Immacolata and Delmonaco, Angelo Giovanni and Ferrero, Giovanni Battista and Pucci, Angela and Sanna, Remonda (2005) Truncus arteriosus and isochromosome 8q. American Journal of Medical Genetics Part A, Vol. 133A (2), p. 223-224. eISSN 1552-4833. Article.