Bibliotecas PUC-SP - Busca Integrada

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

por Wu Bai-Lin, Lai Poh, Shen Yiping, Lip Va, Barrett Caitlin, Cheng Andrew S, Burgess Stephanie, Estrella Elicia, Schneider Hal E, Bennett Richard R, Darras Basil T, Beggs Alan H, Kunkel Louis M
Publicado en BMC Genetics (2009-10-01)

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

por Gazda, Hanna T., Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Schneider, Hal, Darras, Natasha, Hasman, Catherine, Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Zaucha, Jan M., Glader, Bertil, Niemeyer, Charlotte, Meerpohl, Joerg J., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
Publicado 2008

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

por Farrar, Jason E., Nater, Michelle, Caywood, Emi, McDevitt, Michael A., Kowalski, Jeanne, Takemoto, Clifford M., Talbot, C. Conover, Meltzer, Paul, Esposito, Diane, Beggs, Alan H., Schneider, Hal E., Grabowska, Agnieszka, Ball, Sarah E., Niewiadomska, Edyta, Sieff, Colin A., Vlachos, Adrianna, Atsidaftos, Eva, Ellis, Steven R., Lipton, Jeffrey M., Gazda, Hanna T., Arceci, Robert J.
Publicado 2008

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

por Gazda, Hanna T. , Grabowska, Agnieszka , Merida-Long, Lilia B. , Latawiec, Elzbieta , Schneider, Hal E. , Lipton, Jeffrey M. , Vlachos, Adrianna , Atsidaftos, Eva , Ball, Sarah E. , Orfali, Karen A. , Niewiadomska, Edyta , Da Costa, Lydie , Tchernia, Gil , Niemeyer, Charlotte , Meerpohl, Joerg J. , Stahl, Joachim , Schratt, Gerhard , Glader, Bertil , Backer, Karen , Wong, Carolyn , Nathan, David G. , Beggs, Alan H. , Sieff, Colin A. 
Publicado 2006