A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism

por Galán-Vidal, Jesús, Socuéllamos, Paula G., Baena-Nuevo, María, Contreras, Lizbeth, González, Teresa, Pérez-Poyato, María S., Valenzuela, Carmen, González-Lamuño, Domingo, Gandarillas, Alberto
Publicado 2022

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

por Fernández-Marmiesse, Ana, Morey, Marcos, Pineda, Merce, Eiris, Jesús, Couce, Maria Luz, Castro-Gago, Manuel, Fraga, Jose Maria, Lacerda, Lucia, Gouveia, Sofia, Pérez-Poyato, Maria Socorro, Armstrong, Judith, Castiñeiras, Daisy, Cocho, Jose A
Publicado 2014