Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

অনুযায়ী Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella
প্রকাশিত Eur J Paediatr Neurol (2020)

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

অনুযায়ী Borroni, Barbara, Di Gregorio, Eleonora, Orsi, Laura, Vaula, Giovanna, Costanzi, Chiara, Tempia, Filippo, Mitro, Nico, Caruso, Donatella, Manes, Marta, Pinessi, Lorenzo, Padovani, Alessandro, Brusco, Alfredo, Boccone, Loredana
প্রকাশিত Parkinsonism Relat Disord (2016)

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

অনুযায়ী Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
প্রকাশিত 2008

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

অনুযায়ী Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
প্রকাশিত 2008

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

অনুযায়ী Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo
প্রকাশিত Ital J Pediatr (2019)

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

অনুযায়ী Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
প্রকাশিত 2012

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38

অনুযায়ী Manes, Marta, Alberici, Antonella, Di Gregorio, Eleonora, Boccone, Loredana, Premi, Enrico, Mitro, Nico, Pasolini, Maria Pia, Pani, Claudia, Paghera, Barbara, Perani, Daniela, Orsi, Laura, Costanzi, Chiara, Ferrero, Marta, Zoppo, Adele, Tempia, Filippo, Caruso, Donatella, Grassi, Mario, Padovani, Alessandro, Brusco, Alfredo, Borroni, Barbara
প্রকাশিত Ann Neurol (2017)

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

অনুযায়ী Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo
প্রকাশিত 2014

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

অনুযায়ী Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
প্রকাশিত Hum Mutat (2014)