Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

por Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Publicado 2021

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

por Argente‐Escrig, Herminia, Frasquet, Marina, Vázquez‐Costa, Juan Francisco, Millet‐Sancho, Elvira, Pitarch, Inmaculada, Tomás‐Vila, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa
Publicado 2021

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

por D. Hidalgo-Santos, Antonio, del Carmen DeMingo-Alemany, Maria, Moreno-Macián, Francisca, Roselló, Mónica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, León-Cariñena, Sara, Tomás-Vila, Miguel
Publicado 2018

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

por Martínez-Rubio, Dolores, Hinarejos, Isabel, Argente-Escrig, Herminia, Marco-Marín, Clara, Lozano, María Ana, Gorría-Redondo, Nerea, Lupo, Vincenzo, Martí-Carrera, Itxaso, Miranda, Concepción, Vázquez-López, María, García-Pérez, Asunción, Marco-Hernández, Ana Victoria, Tomás-Vila, Miguel, Aguilera-Albesa, Sergio, Espinós, Carmen
Publicado 2023

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

por Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Publicado 2023