Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes

por de Valles-Ibáñez, Guillem, Hernandez-Rodriguez, Jessica, Prado-Martinez, Javier, Luisi, Pierre, Marquès-Bonet, Tomàs, Casals, Ferran
Publicado 2016

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

por de Valles‐Ibáñez, Guillem, Hildebrand, Michael S., Bahlo, Melanie, King, Chontelle, Coleman, Matthew, Green, Timothy E., Goldsmith, John, Davis, Suzanne, Gill, Deepak, Mandelstam, Simone, Scheffer, Ingrid E., Sadleir, Lynette G.
Publicado 2021

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

por de Valles-Ibáñez, Guillem, Esteve-Solé, Ana, Piquer, Mònica, González-Navarro, E. Azucena, Hernandez-Rodriguez, Jessica, Laayouni, Hafid, González-Roca, Eva, Plaza-Martin, Ana María, Deyà-Martínez, Ángela, Martín-Nalda, Andrea, Martínez-Gallo, Mónica, García-Prat, Marina, del Pino-Molina, Lucía, Cuscó, Ivón, Codina-Solà, Marta, Batlle-Masó, Laura, Solís-Moruno, Manuel, Marquès-Bonet, Tomàs, Bosch, Elena, López-Granados, Eduardo, Aróstegui, Juan Ignacio, Soler-Palacín, Pere, Colobran, Roger, Yagüe, Jordi, Alsina, Laia, Juan, Manel, Casals, Ferran
Publicado 2018