Items where Author is "Di Rocco, Maja"

2020

Bedoni, Nicola and Quinodoz, Mathieu and Pinelli, Michele and Cappuccio, Gerarda and Torella, Annalaura and Nigro, Vincenzo and Testa, Francesco and Simonelli, Francesca and Telethon Undiagnosed Disease Programm, and Corton, Marta and Lualdi, Susanna and Lanza, Federica and Morana, Giovanni and Ayuso, Carmen and Di Rocco, Maja and Filocamo, Mirella and Banfi, Sandro and Brunetti-Pierri, Nicola and Superti-Furga, Andrea and Rivolta, Carlo. (2020) An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Human molecular genetics, 29 (13). pp. 2250-2260.

2017

Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M. and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J. and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E. and Martini, Alberto and Manis, John and Linhardt, Robert J. and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M. and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D.. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. Journal of Experimental Medicine, 214 (3). pp. 623-637.

2009

Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M.. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519.