Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Por Götz, Alexandra, Tyynismaa, Henna, Euro, Liliya, Ellonen, Pekka, Hyötyläinen, Tuulia, Ojala, Tiina, Hämäläinen, Riikka H., Tommiska, Johanna, Raivio, Taneli, Oresic, Matej, Karikoski, Riitta, Tammela, Outi, Simola, Kalle O.J., Paetau, Anders, Tyni, Tiina, Suomalainen, Anu
Publicado em 2011

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Por Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R
Publicado em 2010