Browsing by Author Tonda, Raul
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) |
|---|---|---|
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 4-Jan-2017 | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer | Feliubadaló i Elorza, Maria Lídia; Tonda, Raul; Gausachs Romero, Mireia; Trotta, Jean Rémi; Castellanos, Elisabeth; López Dóriga Guerra, Adriana; Teulé-Vega, Àlex; Tornero, Eva; Valle Domínguez, Jesús del; Gel, Bernat; Gut, Marta; Pineda Riu, Marta; González, Sara; Menéndez Vilà, Mireia; Navarro, Matilde; Capellá, G. (Gabriel); Gut, Ivo G.; Serra Arenas, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro García, Conxi |
| 7-Feb-2014 | Combined genetic and high-throughput strategies for the molecular diagnosis of inherited retinal dystrophies | Castro-Miró, Marta de; Pomares, Esther; Lorés-Motta, Laura; Tonda, Raul; Dopazo, Joaquín; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 22-Dec-2016 | Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing | Castro Miró, Marta de; Tonda, Raul; Escudero Ferruz, Paula; Andrés, Rosa; Mayor Lorenzo, Andres; Castro, Joaquín; Ciccioli, Marcela; Hidalgo, Daniel A.; Rodríguez Ezcurra, Juan José; Farrando, Jorge; Pérez Santonja, Juan J.; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Gonzàlez-Duarte, Roser |
| 1-Nov-2021 | The genetic landscape of inherited retinal diseases in a Mexican cohort: Genes, mutations and phenotypes | Villanueva-Mendoza, Cristina; Tuson, Miquel; Apam-Garduño, David; de Castro-Miró, Marta; Tonda, Raul; Trotta, Jean Remi; Marfany i Nadal, Gemma; Valero, Rebeca; Cortés-González, Vianney; Gonzàlez-Duarte, Roser |