Deflazacort-Induced Erythema Multiforme Exudativum Successfully Treated With a Single Dose of Etanercept von Trujillo-Trujillo, M J, González-Mancebo, E, Gandolfo-Cano, M, Mohedano-Vicente, E, Martínez-Morán, C

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Actin Allergen of Common Periwinkle Sea Snail (Littorina littorea) von González-Mancebo, E, Trujillo-Trujillo, M J, Gandolfo-Cano, M, Mohedano-Vicente, E, Cuesta-Herranz, J, Bartolome, B, Pastor-Vargas, C

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Analysis of the effectiveness of training school personnel in the management of food allergy and anaphylaxis von Gonzalez-Mancebo, E, Gandolfo-Cano, M.M, Trujillo-Trujillo, M.J, Mohedano-Vicente, E, Calso, A, Juarez, R, Melendez, A, Morales, P, Pajuelo., F

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Five years’ experience of the clinical exome sequencing in a Spanish single center von 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.

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Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes von Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, Berta, Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., Ayuso, C.

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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases von 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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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma von González-González, M. C., García-Hoyos, M., Trujillo, M.J., Rodríguez de Alba, M., Lorda-Sánchez, I., Díaz-Recasens, J., Gallardo, E., Ayuso, C., Ramos, C.

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Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects von 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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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study von Bustamante-Aragones, A., Trujillo-Tiebas, M. J., Gallego-Merlo, J., Rodriguez de Alba, M., Gonzalez-Gonzalez, C., Cantalapiedra, D., Ayuso, C., Ramos, C.

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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations von Natera-de Benito, D, Bestué, M, Vilchez, J.J, Evangelista, T, Töpf, A, García-Ribes, A, Trujillo-Tiebas, M.J, García-Hoyos, M, Ortez, C, Camacho, A, Jiménez, E, Dusl, M, Abicht, A, Lochmüller, H, Colomer, J, Nascimento, A

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Prevalence of sensitization to lipid transfer proteins and profilins in a population of 430 patients in the south of Madrid von González-Mancebo, E, González-de-Olano, D, Trujillo, M J, Santos, S, Gandolfo-Cano, M, Meléndez, A, Juárez, R, Morales, P, Calso, A, Mazuela, O, Zapatero, A

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Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR von González-González, M. C., Trujillo, M. J., Rodríguez de Alba, M., García-Hoyos, M., Lorda-Sánchez, I., Díaz-Recasens, J., Ayuso, C., Ramos, C.

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The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation von Escámez, M.J., García, M., Cuadrado-Corrales, N., Llames, S.G., Charlesworth, A., De Luca, N., Illera, N., Sánchez-Jimeno, C., Holguín, A., Duarte, B., Trujillo-Tiebas, M.J., Vicario, J.L., Santiago, J.L., Hernández-Martín, A., Torrelo, A., Castiglia, D., Ayuso, C., Larcher, F., Jorcano, J.L., Meana, A., Meneguzzi, G., Zambruno, G., Del Rio, M.

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Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR von GONZALEZ-GONZALEZ, M. C, TRUJILLO, M. J, RODRIGUEZ DE ALBA, M, RAMOS, C

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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers von BUSTAMANTE-ARAGONES, A., RODRIGUEZ DE ALBA, M., GONZALEZ-GONZALEZ, C., TRUJILLO-TIEBAS, M. J., DIEGO-ALVAREZ, D., VALLESPIN, E., PLAZA, J., AYUSO, C., RAMOS, C.

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An optimal power sharing and power control strategy of photovoltaic/fuel cell/ultra-capacitor hybrid power system von Kamal, T., Hassan, S. Z., Espinosa-Trujillo, M. J., Li, H., Flota, M.

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Anaphylaxis to salbutamol von González de Olano, D, Trujillo Trujillo, M J, Santos Magadán, S, Menéndez-Baltanás, A, Gandolfo Cano, M, Ariz Muñoz, S, Sanz Larruga, M L, González-Mancebo, E

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Surface-enhanced Raman scattering of uranyl in aqueous samples: implications for nuclear forensics and groundwater testing von Trujillo, M. J., Jenkins, D. M., Bradshaw, J. A., Camden, J. P.

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Reelin-immunoreactive neurons in the adult vertebrate pallium von Pérez-Garcı́a, C.G., González-Delgado, F.J., Suárez-Solá, M.L., Castro-Fuentes, R., Martı́n-Trujillo, J.M., Ferres-Torres, R., Meyer, G.

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants von Aguirre-Lamban, J, Riveiro-Alvarez, R, Maia-Lopes, S, Cantalapiedra, D, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ramos, C, Ayuso, C

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