Browsing by Author Toma, Claudio

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
21-Feb-2013Chiari malformation type I: a case-control association study of 58 developmental genesUrbizu Serrano, Aintzane; Toma, Claudio; Poca Pastor, María Antonia; Sahuquillo, Juan; Cuenca León, Ester; Cormand Rifà, Bru; Macaya Ruiz, Alfons
17-Jul-2015Genètica molecular de l'autisme: recerca de variants de susceptibilitat i estudis funcionalsTorrico Avilés, Bàrbara
13-Jun-2020Involvement of the 14-3-3 gene family in autism spectrum disorder and schizophrenia: Genetics, transcriptomics and functional analysesTorrico Avilés, Bàrbara; Antón Galindo, Ester; Fernàndez Castillo, Noèlia; Rojo Francàs, Eva; Ghorbani, Sadaf; Pineda Cirera, Laura; Hervás, Amaia; Rueda, Isabel; Moreno Guillén, Estefanía; Fullerton, Janice M.; Casadó, Vicent; Buitelaar, Jan K.; Rommelse, Nanda; Franke, Barbara; Reif, Andreas; Chiocchetti, Andreas G.; Freitag, Christine; Kleppe, Rune; Haavik, Jan; Toma, Claudio; Cormand Rifà, Bru
31-May-2017Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxiaSintas Vives, Cèlia; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca León, Ester; Barroeta, Isabel; Roig i Arnall, Carles; Volpini Bertrán, Víctor; Macaya Ruiz, Alfons; Cormand Rifà, Bru
Nov-2013Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studiesCarreño, Oriel; Corominas Castiñeira, Roser; Serra, Selma Angèlica; Sintas Vives, Cèlia; Fernàndez Castillo, Noèlia; Vila Pueyo, Marta; Toma, Claudio; González Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg Vaisman, Daniel Raúl; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya Ruiz, Alfons; Cormand Rifà, Bru
16-May-2019Truncating variant burden in high functioning autism and pleiotropic effects of lrp1 across psychiatric phenotypesTorrico Avilés, Bàrbara; Shaw, Alex D.; Mosca, Roberto; Vivó-Luque, Norma; Hervás, A.; Fernàndez Castillo, Noèlia; Aloy, Patrick, 1972-; Bayés Colomer, Mònica; Fullerton, J.M.; Cormand Rifà, Bru; Toma, Claudio
16-Sep-2019Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancerToma, Claudio; Díaz Gay, Marcos; Franch Expósito, Sebastià; Arnau Collell, Coral; Overs, Bronwyn; Muñoz, Jenifer; Bonjoch Gassol, Laia; Soares de Lima, Yasmin; Ocaña, Teresa; Cuatrecasas Freixas, Miriam; Castells Garangou, Antoni; Bujanda, Luis; Balaguer Prunés, Francesc; Cubiella, Joaquín; Caldés, Trinidad; Fullerton, Janice M.; Castellví Bel, Sergi