Browsing by Author Cormand Rifà, Bru

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Issue DateTitleAuthor(s)
12-Jan-2018A de novo FOXP1 truncating mutation in a patient originally diagnosed as C SyndromeUrreizti, 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
10-Mar-2017A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromesUrreizti, Roser; Cueto Gonzalez, Anna Maria; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort Roca, Magda; Hecht, Jochen; Tizzano Ferrari, Eduardo; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
8-Aug-2016A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine DependenceCabana Domínguez, Judit; Roncero, Carlos; Grau-López, Lara; Rodríguez-Cintas, Laia; Barral, Carmen; Abad, Alfonso C.; Erikson, Galina; Wineinger, Nathan E; Torrico Avilés, Bàrbara; Arenas Solà, Concepción; Casas, Miquel; Ribasés Haro, Marta; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia
2010A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosisSerra, Selma A.; Cuenca-León, Ester; Llobet Berenguer, Artur, 1972-; Rubio-Moscardo, Francisca; Plata, Cristina; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Valverde, Miguel A.; Macaya, Alfons; Cormand Rifà, Bru; Fernández-Fernández, José M.
29-Jan-2019ADGRL3 (LPHN3) variants predict substance use disorderArcos 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.
27-Feb-2007Alteracions de la VIA RAS-RAF en càncer gastrointestinal amb defectes de reparació genòmicaDomingo Villanueva, Enric
1-Jun-2018An integrated analysis of genes and functional pathways for aggression in human and rodent modelsZhang-James, Yanli; Fernàndez Castillo, Noèlia; Hess, Jonathan L.; Malki, Karim; Glatt, Stephen J.; Cormand Rifà, Bru; Faraone, Stephen V.
22-Jun-2018Analysis of shared heritability in common disorders of the brainAnttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Walters, James; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; IGAP consortium; IHGC consortium; ILAE Consortium on Complex Epilepsies; IMSGC consortium; IPDGC consortium; METASTROKE; Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium [...] Rabionet R [...]; Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium; Anorexia Nervosa Working Group of the Psychiatric Genomics Consortium; Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Tourette Syndrome; Obsessive Compulsive Disorder; Tourette Syndrome Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Cormand Rifà, Bru; Rabionet Janssen, Raquel
3-Nov-2011Anàlisi genètica i funcional de la migranya hemiplègica i la migranya comunaCarreño, Oriel
9-Apr-2008Anàlisi genètica i molecular de les migranyes hereditàriesCuenca León, Ester
22-Feb-2008Análisis genético y molecular del síndrome de Maroteaux-LamyGarrido Fernández, Elena
18-Feb-2011Aplicació de tecnologies optimitzades al diagnòstic molecular de la malaltia de von Willebrand per a l’estudi de la relació genotip-fenotipCorrales Insa, Irene
31-Aug-2017Association of the PLCB1 gene with drug dependenceCabana Domínguez, Judit; Roncero, Carlos; Pineda Cirera, Laura; Palma Álvarez, R. Felipe; Ros Cucurull, Elena; Grau-López, Lara; Esojo, Abderaman; Casas, Miquel; Arenas Solà, Concepción; Ramos Quiroga, Josep Antoni; Ribasés Haro, Marta; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru
2-Jun-2009Avaluació de gens de susceptibilitat a formes comunes de migranyaCorominas Castiñeira, Roser
13-Jun-2013Bases genètiques en la malformació de Chiari tipus iUrbizu Serrano, Aintzane
5-Mar-2020Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationSchottlaender, Lucia V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stepanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernadett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling S.; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand Lions, Michael; Houlden, Henry; Cormand Rifà, Bru
20-Apr-2016Caenorhabditis elegans as animal model to investigate the cellular mechanism of resistance for the chemotherapeutic agent cisplatinGarcía Rodríguez, Francisco J.
26-Oct-2020Characterisation of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functionsNavas Pérez, Enrique; Vicente García, Cristina; Mirra, Serena; Burguera Hernández, Demian; Fernàndez Castillo, Noèlia; Ferrán, José Luis; López Mayorga, Macarena; Alaiz Noya, Marta; Suárez Pereira, Irene; Antón Galindo, Ester; Ulloa Darquea, Fausto Alexander; Herrera Úbeda, Carlos; Cuscó, Pol; Falcón Moya, Rafael; Rodríguez Moreno, Antonio; D'Aniello, Salvatore; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Soriano García, Eduardo; Carrión, Ángel M.; Carvajal, Jaime J.; Garcia Fernández, Jordi
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
10-Jul-2015Combinació de tècniques citogenètiques en la leucèmia limfàtica crònica: estudi de l'heterogeneïtat dels pacients i aplicabilitat a la pràctica clínicaPuiggros Metje, Anna M.