Browsing by Author Verdura, Edgard
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 7-Sep-2023 | ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization | 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; García Cazorla, Àngels; Ortiz Martínez, Antonio José; Ignacio Ortez, Carlos; Cáceres Marzal, Cristina; Martínez Salcedo, Eduardo; Mondragón, Elisabet; Barredo, Estíbaliz; Airaldi, Ileana Antón; Martínez, Javier Ruiz; Ramos, Joaquin A. Fernández; Vázquez, Juan Francisco; Díez Porras, Laura; Vázquez Cancela, María; O’callaghan, Mar; Sánchez, Tamara Pablo; Nedkova, Velina; Pérez, Ana Isabel Maraña; Beltran, Sergi; Gutiérrez Solana, Luis G.; Pérez Jurado, Luis A.; Aguilera Albesa, Sergio; De Munain, Adolfo López; Casasnovas, Carlos; Pujol, Aurora; Hsp/ataxia Workgroup |
| 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia | Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Castellano, Antonio; Pujol Onofre, Aurora |