Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases

by I. Vieitez, P. Gallano, L. González-Quereda, S. Borrego, I. Marcos, J.M. Millán, T. Jairo, C. Prior, J. Molano, M.J. Trujillo-Tiebas, J. Gallego-Merlo, M. García-Barcina, M. Fenollar, C. Navarro
Published 2017-07-01

Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

by I. Vieitez, P. Gallano, L. González-Quereda, S. Borrego, I. Marcos, J.M. Millán, T. Jairo, C. Prior, J. Molano, M.J. Trujillo-Tiebas, J. Gallego-Merlo, M. García-Barcina, M. Fenollar, C. Navarro
Published 2017-07-01

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

by A. Arteche-López, A. Ávila-Fernández, R. Romero, R. Riveiro-Álvarez, M. A. López-Martínez, A. Giménez-Pardo, C. Vélez-Monsalve, J. Gallego-Merlo, I. García-Vara, Berta Almoguera, A. Bustamante-Aragonés, F. Blanco-Kelly, S. Tahsin-Swafiri, E. Rodríguez-Pinilla, P. Minguez, I. Lorda, M. J. Trujillo-Tiebas, C. Ayuso
Published 2021-03-01