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Results 1-10 of 13 (Search time: 0.036 seconds).
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Issue DateTitleAuthor(s)
10-Jan-2022Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationSchlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group
1-Feb-2023Treatable Traits in Airway Disease: From Theory to PracticeAgustí, A.; Gibson, P. G.; McDonald, V. M.
6-Feb-2023IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformationTristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya, Ángel; García Cazorla, Àngels; Consiglio, Antonella
1-Apr-2020Comprehensive data integration-Toward a more personalized assessment of diastolic functionLoncaric, Filip; Cikes, Maja; Sitges Carreño, Marta; Bijnens, Bart
17-May-2022Shaped before birth: Obstetric complications identify a more severe clinical phenotype among patients presenting a first affective or non-affective episode of psychosisSagué Vilavella, Maria; Amoretti Guadall, Silvia; Garriga, Marina; Mezquida Mateos, Gisela; Williams, Evelyn; Serra Navarro, Maria; Forte, Maria Florencia; Varo, Cristina; Montejo Ejido, Laura; Palacios Garrán, Roberto; Madero, Santiago; Sparacino, Giulio; Anmella, Gerard; Fico, Giovanna; Giménez Palomo, Anna; Pons Cabrera, Maria Teresa; Salgado Pineda, Pilar; Montoro Salvatierra, Irene; Sánchez Gistau, Vanessa; Pomarol-Clotet, Edith; Ramos Quiroga, Josep Antoni; Undurraga Fourcade, Juan Pablo; Reinares, María; Martínez-Arán, Anabel, 1971-; Pacchiarotti, Isabella; Valli, Isabel; Bernardo Arroyo, Miquel; García Rizo, Clemente; Vieta i Pascual, Eduard, 1963-; Verdolini, Norma
23-Apr-2020Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic neviCalbet Llopart, Neus; Pascini Garrigòs, Mireia; Tell Martí, Gemma; Potrony Mateu, Míriam; Martins da Silva, Vanessa; Barreiro, Alicia; Puig i Sardà, Susana; Captier, Malvehy J Guillaume; James, Isabelle; Degardin, Nathalie; Carrera Álvarez, Cristina; Malvehy, J. (Josep); Etchevers, Heather C.; Puig Butillé, Joan Anton
31-Jan-2017Influence of Vancomycin Minimum Inhibitory Concentration on the Outcome of Methicillin-Susceptible Staphylococcus aureus Left-Sided Infective Endocarditis Treated with Anti-staphylococcal Beta-Lactam Antibiotics; a Prospective Cohort Study by the International Collaboration on EndocarditisPericàs, Juan M.; Messina, J.A.; García de la Mària, Cristina; Park, L.; Sharma Kuinkel, B.K.; Marco, F.; Wray, D.; Kanafani, Z.; Carugati, M.; Durante Mangoni, E.; Tattevin, P.; Chu, V.H.; Moreno Camacho, Ma. Asunción; Fowler Jr., V.G.; Miró Meda, José M.; The International Collaboration on Endocarditis Microbiology Investigators
Jan-2024Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriersSierra Marcos, A.; Ribosa Nogué, R.; Vidal Robau, N.; Aldecoa, I.; Turón, E.; Rodriguez Santiago, B.; Turón, M.; Boronat, S.; Molina Porcel, L.
May-2012Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's diseaseSánchez Danés, Adriana; Richaud-Patin, Yvonne; Carballo Carbajal, Iria; Jiménez Delgado, Senda; Caig, Carles; Mora, Sergio; Di Guglielmo, Claudia; Ezquerra, Mario; Patel, Bindiben; Giralt Torroella, Albert; Canals i Coll, Josep M.; Memo, Maurizio; Alberch i Vié, Jordi, 1959-; López Barneo, José; Vila Farré, Miquel; Cuervo, Ana Maria; Tolosa, Eduardo; Consiglio, Antonella; Raya Chamorro, Ángel
24-Jan-2014Identification of tissue microRNAs predictive of sunitinib activity in patients with metastatic renal cell carcinomaPrior, Celia; Perez-Gracia, Jose Luis; Garcia Donas, Jesus; Rodriguez-Antona, Cristina; Guruceaga, Elisabeth; Esteban, Emilio; Suarez, Cristina; Castellano, Daniel; González del Alba, Aránzazu; Lozano, Maria Dolores; Carles, Joan; Climent, Miguel Angel; Arranz, José Ángel; Gallardo, Enrique; Puente, Javier; Bellmunt Molins, Joaquim, 1959-; Gurpide, Alfonso; Lopez-Picazo, Jose Maria; Gonzalez Hernandez, Alvaro; Mellado González, Begoña; Martínez, Esther; Moreno, Fernando; Font Pous, Albert; Calvo, Alfonso