Analysis of autoantibodies against Ro52/Ro60 in patients with suspected diagnosis of autoimmune systemic disease

Por Salvador, Iñaki, Ruiz-Ortiz, Estibaliz, Olivé, Alejandro, Escudero, Domingo, Bielsa, Isabel, Martínez-Cáceres, Eva
Publicado em 2012

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Por Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio
Publicado em 2014

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2

Por Castellanos, Elisabeth, Rosas, Imma, Solanes, Ares, Bielsa, Isabel, Lázaro, Conxi, Carrato, Cristina, Hostalot, Cristina, Prades, Pepe, Roca-Ribas, Francesc, Blanco, Ignacio, Serra, Eduard
Publicado em 2013

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb

Por Castellanos, Elisabeth, Bielsa, Isabel, Carrato, Cristina, Rosas, Imma, Solanes, Ares, Hostalot, Cristina, Amilibia, Emilio, Prades, José, Roca-Ribas, Francesc, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard
Publicado no BMC Med Genomics (2015)

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood

Por Castellanos, Elisabeth, Plana, Adrià, Carrato, Cristina, Carrió, Meritxell, Rosas, Inma, Amilibia, Emilio, Roca-Ribas, Francesc, Hostalot, Cristina, Castillo, Alicia, Ros, Andrea, Quer, Ariadna, Becerra, Juan Luis, Salvador, Hector, Lázaro, Conxi, Blanco, Ignacio, Serra, Eduard, Bielsa, Isabel
Publicado no JAMA Dermatol (2018)