The asymmetry of antimatter in the proton
Dove, J, Kerns, B, McClellan, R E, Miyasaka, S, Morton, D H, Nagai, K, Prasad, S, Sanftl, F, Scott, M B C, Tadepalli, A S, Aidala, C A, Arrington, J, Ayuso, C, Barker, C L, Brown, C N, Chang, W C, Chen, A, Christian, D C, Dannowitz, B P, Daugherity, M, Diefenthaler, M, El Fassi, L, Geesaman, D F, Gilman, R, Goto, Y, Guo, L, Guo, R, Hague, T J, Holt, R J, Isenhower, D, Kinney, E R, Kitts, N, Klein, A, Kleinjan, D W, Kudo, Y, Leung, C, Lin, P-J, Liu, K, Liu, M X, Lorenzon, W, Makins, N C R, de Medeiros, M Mesquita, McGaughey, P L, Miyachi, Y, Mooney, I, Nakahara, K, Nakano, K, Nara, S, Peng, J-C, Puckett, A J, Ramson, B J, Reimer, P E, Rubin, J G, Sawada, S, Sawada, T, Shibata, T-A, Su, D, Teo, M, Tice, B G, Towell, R S, Uemura, S, Watson, S, Wang, S G, Wickes, A B, Wu, J, Xi, Z, Ye, Z
Published in Nature (London) (25.02.2021)
Published in Nature (London) (25.02.2021)
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Published in Scientific reports (11.03.2021)
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Magnetic resonance for assessment of disease activity and severity in ileocolonic Crohn’s disease
Rimola, J, Rodriguez, S, García-Bosch, O, Ordás, I, Ayala, E, Aceituno, M, Pellisé, M, Ayuso, C, Ricart, E, Donoso, L, Panés, J
Published in Gut (01.08.2009)
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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Perea-Romero, I., Blanco-Kelly, F., Sanchez-Navarro, I., Lorda-Sanchez, I., Tahsin-Swafiri, S., Avila-Fernandez, A., Martin-Merida, I., Trujillo-Tiebas, M. J., Lopez-Rodriguez, R., Rodriguez de Alba, M., Iancu, I. F., Romero, R., Quinodoz, M., Hakonarson, H., Garcia-Sandova, Blanca, Minguez, P., Corton, M., Rivolta, C., Ayuso, C.
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Five years' experience of the clinical exome sequencing in a Spanish single center
Arteche-López, A, Ávila-Fernández, A, Riveiro Álvarez, R, Almoguera, B, Bustamante Aragonés, A, Martin-Merida, I, López Martínez, M A, Giménez Pardo, A, Vélez-Monsalve, C, Gallego Merlo, J, García Vara, I, Blanco-Kelly, F, Tahsin Swafiri, S, Lorda Sánchez, I, Trujillo Tiebas, M J, Ayuso, C
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes
Amati-Bonneau, Patrizia, Valentino, Maria Lucia, Reynier, Pascal, Gallardo, Maria Esther, Bornstein, Belén, Boissière, Anne, Campos, Yolanda, Rivera, Henry, de la Aleja, Jesús González, Carroccia, Rosanna, Iommarini, Luisa, Labauge, Pierre, Figarella-Branger, Dominique, Marcorelles, Pascale, Furby, Alain, Beauvais, Katell, Letournel, Franck, Liguori, Rocco, La Morgia, Chiara, Montagna, Pasquale, Liguori, Maria, Zanna, Claudia, Rugolo, Michela, Cossarizza, Andrea, Wissinger, Bernd, Verny, Christophe, Schwarzenbacher, Robert, Martín, Miguel Ángel, Arenas, Joaquιn, Ayuso, Carmen, Garesse, Rafael, Lenaers, Guy, Bonneau, Dominique, Carelli, Valerio
Published in Brain (London, England : 1878) (01.02.2008)
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Implication of non-coding PAX6 mutations in aniridia
Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.
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Genetics and epidemiology of aniridia: Updated guidelines for genetic study
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Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease
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Publisher Correction: The asymmetry of antimatter in the proton
Dove, J, Kerns, B, McClellan, R E, Miyasaka, S, Morton, D H, Nagai, K, Prasad, S, Sanftl, F, Scott, M B C, Tadepalli, A S, Aidala, C A, Arrington, J, Ayuso, C, Barker, C L, Brown, C N, Chang, W C, Chen, A, Christian, D C, Dannowitz, B P, Daugherity, M, Diefenthaler, M, El Fassi, L, Geesaman, D F, Gilman, R, Goto, Y, Guo, L, Guo, R, Hague, T J, Holt, R J, Isenhower, D, Kinney, E R, Kitts, N, Klein, A, Kleinjan, D W, Kudo, Y, Leung, C, Lin, P-J, Liu, K, Liu, M X, Lorenzon, W, Makins, N C R, de Medeiros, M Mesquita, McGaughey, P L, Miyachi, Y, Mooney, I, Nakahara, K, Nakano, K, Nara, S, Peng, J-C, Puckett, A J, Ramson, B J, Reimer, P E, Rubin, J G, Sawada, S, Sawada, T, Shibata, T-A, Su, D, Teo, M, Tice, B G, Towell, R S, Uemura, S, Watson, S, Wang, S G, Wickes, A B, Wu, J, Xi, Z, Ye, Z
Published in Nature (London) (28.04.2022)
Published in Nature (London) (28.04.2022)
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Estimation of combinatoric background in seaquest using an event-mixing method
Pate, S.F., Pun, A., Hossain, M.F., Nagai, K., Aidala, C.A., Ayuso, C., El Fassi, L., Geesaman, D.F., Hague, T.J., Kinney, E.R., Lorenzon, W., Nakano, K., Reimer, P.E., Scott, M.B.C., Towell, R.S.
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Morales-Piga, A, Bachiller-Corral, J, Trujillo-Tiebas, M.J, Villaverde-Hueso, A, Gamir-Gamir, M.L, Alonso-Ferreira, V, Vázquez-Díaz, M, Posada de la Paz, M, Ayuso-García, C
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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel-Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K
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Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development
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Published in Leukemia (01.01.2016)
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Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene
Galera-Monge, Teresa, Zurita-Díaz, Francisco, Moreno-Izquierdo, Ana, Fraga, Mario F., Fernández, Agustin F., Ayuso, C., Garesse, Rafael, Gallardo, M. Esther
Published in Stem cell research (01.05.2016)
Published in Stem cell research (01.05.2016)
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