Resultados da busca - Sparks, Susan E

Congenital protein hypoglycosylation diseases por Sparks, Susan E

Obter o texto integral Obter o texto integral Obter o texto integral

Evidence that mouse brain neuropathy target esterase is a lysophospholipase por Quistad, Gary B., Barlow, Carrolee, Winrow, Christopher J., Sparks, Susan E., Casida, John E.

Obter o texto integral Obter o texto integral Obter o texto integral

A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome por Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.

Obter o texto integral Obter o texto integral Obter o texto integral

Hermansky-Pudlak Syndrome in Two African-American Brothers por Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O’Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.

Obter o texto integral Obter o texto integral Obter o texto integral

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients por Schreiber, John M., Lanham, Diane C., Trescher, William H., Sparks, Susan E., Wassif, Christopher A., Caffo, Brian S., Porter, Forbes D., Tierney, Elaine, Gropman, Andrea L., Ewen, Joshua B.

Obter o texto integral Obter o texto integral Obter o texto integral

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease por Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn

Obter o texto integral Obter o texto integral Obter o texto integral

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy por Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio, Hamid, Hoda Abdel, Byrne, Barry J., Connolly, Anne M., Dracker, Robert A., Matthew Frank, L., Heydemann, Peter T., O'Brien, Kevin C., Sparks, Susan E., Specht, Linda A., Rodino‐Klapac, Louise, Sahenk, Zarife, Al‐Zaidy, Samiah, Cripe, Linda H., Lewis, Sarah, M, Pane, E, Mazzone, S, Messina, GL, Vita, Bertini, D Amico A, Casimiro, Berardinelli A, Y, Torrente, F, Magri, GP, Comi, G, Baranello, T, Mongini, A, Pini, R, Battini, E, Pegoraro, C, Bruno, L, Politano, S, Previtali

Obter o texto integral Obter o texto integral Obter o texto integral

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients por Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.

Obter o texto integral Obter o texto integral Obter o texto integral