Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

por García-García, Gema, Aller, Elena, Jaijo, Teresa, Aparisi, Maria J., Larrieu, Lise, Faugère, Valérie, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Francoise, Millán, José M.
Publicado 2014

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

por Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Publicado 2014

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3

por García-García, Gema, Aparisi, María J., Rodrigo, Regina, Sequedo, María D., Espinós, Carmen, Rosell, Jordi, Olea, José L., Mendívil, M. Paz, Ramos-Arroyo, María A, Ayuso, Carmen, Jaijo, Teresa, Aller, Elena, Millán, José M.
Publicado 2012

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

por Garcia-Garcia, Gema, Aparisi, Maria J, Jaijo, Teresa, Rodrigo, Regina, Leon, Ana M, Avila-Fernandez, Almudena, Blanco-Kelly, Fiona, Bernal, Sara, Navarro, Rafael, Diaz-Llopis, Manuel, Baiget, Montserrat, Ayuso, Carmen, Millan, Jose M, Aller, Elena
Publicado 2011

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

por Moreau-Le Lan, Sarah, Aller, Elena, Calabria, Ines, Gonzalez-Tarancon, Lola, Cardona-Gay, Cristina, Martinez-Matilla, Marina, Aparisi, Maria J., Selles, Jorge, Sagath, Lydia, Pitarch, Inmaculada, Muelas, Nuria, Cervera, Jose V., Millan, Jose M., Pedrola, Laia
Publicado 2018