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| Issue Date | Title | Author(s) |
|---|---|---|
| Nov-2013 | Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies | Carreño, 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 |
| 2003 | Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy | Savander, M.; Ropponen, A.; Avela, K.; Weerasekera, N.; Cormand Rifà, Bru; Hirvioja, M. L.; Riikonen, S.; Ylikorkala, O.; Lehesjoki, A. E.; Williamson, C.; Aittomäki, Kristiina |
| 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 |
| 27-Oct-2015 | Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence | Fernàndez Castillo, Noèlia; Cabana Domínguez, Judit; Soriano i Fradera, Jordi; Sánchez Mora, Cristina; Roncero, Carlos; Grau-López, Lara; Ros Cucurull, Elena; Daigre, Constanza; van Donkelaar, M. M. J.; Franke, B.; Casas, Miquel; Ribasés Haro, Marta; Cormand Rifà, Bru |
| 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 |
| 29-Jan-2019 | ADGRL3 (LPHN3) variants predict substance use disorder | Arcos Burgos, Mauricio; Ribasés Haro, Marta; Martínez, Ariel F.; Ramos Quiroga, Josep Antoni; Sánchez Mora, Cristina; Richarte, Vanesa; Roncero, Carlos; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia; Casas, Miguel; Vélez, Jorge I.; Lopera, Francisco; Pineda, David A.; Palacio, Juan D.; Molina, Brooke S. G.; Boden, Margaret T.; Wallis, Deeann; Lidbury, Brett; Patel, Hardip; Newman, Saul; Easteal, Simon; Swanson, James; Mastronardi, Claudio A.; Volkow, Nora D., 1956-; Acosta, Maria T.; Castellanos, Francisco X.; Leon, José de; Muenke, Maximillian; Acosta López, Johan E.; MTA Cooperative Group; Cervantes Henriquez, Martha L.; Sánchez Rojas, Manuel G.; Puentes Rozo, Pedro J.; Molina, Brooke S. G. |
| 18-Oct-2016 | Exome chip analyses in adult attention deficit hyperactivity disorder | Zayats, T.; Jacobsen, K. K.; Kleppe, R.; Jacob, C. P.; Kittel-Schneider, S.; Ribasés Haro, Marta; Ramos Quiroga, Josep Antoni; Richarte, Vanesa; Casas, M.; Mota, N. R.; Grevet, Eugenio Horacio; Klein, M.; Corominas, J.; Bralten, J.; Galesloot, T.; Vasquez, A. A.; Herms, Stefan; Forstner, Andreas J.; Larsson, H.; Breen, G.; Asherson, P.; Gross-Lesch, S.; Lesch, Klaus-Peter; Cichon, Sven; Gabrielsen, M. B.; Holmen, O. L.; Bau, Claiton Henrique Dotto; Buitelaar, Jan K.; Kiemeney, Lambertus A. L. M.; Faraone, Stephen V.; Cormand Rifà, Bru; Franke, B.; Reif, Andreas; Haavik, J.; Johansson, S. |
| 19-Aug-2015 | Evaluation of aminoglycoside and non-aminoglycoside compounds for stop-codon readthrough therapy in four lysosomal storage diseases | Gómez Grau, Marta; Garrido Fernández, Elena; Cozar, Mónica; Rodríguez Sureda, Víctor; Domínguez, Carmen; Arenas Solà, Concepción; Gatti, Richard A; Cormand Rifà, Bru; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa |
| 9-Sep-2019 | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination | Efthymiou, S.; Salpietro, V.; Malintan,N.; Poncelet, M.; Kriouile, Y.; Fortuna, S.; De Zorzi, R.; Payne, K.; Henderson, L.B.; Cortese, A.; Maddirevula, S.; Alhashmi, N.; Wiethoff, S.; Ryten, M.; Botia, J.A.; Provitera, V.; Schuelke, M.; Vandrovcova, J.; SYNAPS Study Group; Walsh, L.; Torti, E.; Iodice, V.; Najafi, M.; Karimiani, E.G.; Maroofian, R.; Siquier-Pernet, K.; Boddaert, N.; De Lonlay, P.; Cantagrel, V.; Aguennouz, M.; El Khorassani, M.; Schmidts, M.; Alkuraya, F.S.; Edvardson, S.; Nolano, M.; Devaux, J.; Houlden, H.; Cormand Rifà, Bru |
| 25-Jan-2021 | Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder | Demontis, Ditte; Walters, Raymond; Rajagopal, Veera M.; Waldman, Irwin D.; Grove, Jakob; Als, Thomas D.; Dalsgaard, Soren; Ribasés Haro, Marta; Grauholm, Jonas; Bækvad-Hansen, Maria; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Psychiatric Genomics Consortium (PGC); Cormand Rifà, Bru; Hougaard, David M.; Neale, Benjamin M.; Franke, Barbara; Faraone, Stephen V.; Børglum, Anders D. |
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