21600. RENTABILIDAD DIAGNÓSTICA DEL ESTUDIO GENÉTICO EN LA HIPERCKEMIA ASINTOMÁTICA: ANÁLISIS DE UNA SERIE DE CASOS von Rodríguez Albacete, N., Fenollar Cortés, M., Cotarelo Pérez, M., Oancea Ionescu, R., Herrero Forte, C., Guerrero Sola, A., Martínez Vicente, L., Galán Dávila, L., Horga Hernández, A., García Ruiz, M.

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Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases von Vieitez, I., Gallano, P., González-Quereda, L., Borrego, S., Marcos, I., Millán, J.M., Jairo, T., Prior, C., Molano, J., Trujillo-Tiebas, M.J., Gallego-Merlo, J., García-Barcina, M., Fenollar, M., Navarro, C.

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Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos von Vieitez, I, Gallano, P, González-Quereda, L, Borrego, S, Marcos, I, Millán, J.M, Jairo, T, Prior, C, Molano, J, Trujillo-Tiebas, M.J, Gallego-Merlo, J, García-Barcina, M, Fenollar, M, Navarro, C

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Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases von Gallano, P, Vieitez, I, Gonzalez-Quereda, L, Borrego, S, Marcos, I, Millan, J, Jaijo, T, Prior, C, Molano, J, Trujillo-Tiebas, M, Gallego-Merlo, J, Garcia-Barcina, M, Fenollar-Cortés, M, Navarro, C

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene von Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.

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Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family von Fenollar-Cortés, M., Gallego-Merlo, J., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Ayuso, C.

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Effects of anisomycin on inhibitory avoidance in male and female CD1 mice von Monleón Verdú, Santiago, Arenas Fenollar, M Carmen, Vinader Caerols, Concepción, Ferrer Añó, Aránzazu, Parra Guerrero, Andrés

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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies von Ferreira, Susana, Ortiz, Alberto, Germain, Dominique P., Viana-Baptista, Miguel, Caldeira-Gomes, António, Camprecios, Marta, Fenollar-Cortés, Maria, Gallegos-Villalobos, Ángel, Garcia, Diego, García-Robles, José Antonio, Egido, Jesús, Gutiérrez-Rivas, Eduardo, Herrero, José Antonio, Mas, Sebastián, Oancea, Raluca, Péres, Paloma, Salazar-Martín, Luis Manuel, Solera-Garcia, Jesús, Alves, Helena, Garman, Scott C., Oliveira, João Paulo

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Ha aumentado el interés por estudiar Medicina tras la pandemia? Un análisis de los datos sobre solicitudes de admisión al grado universitario en Medicina en España von Fernández-Rodríguez, Conrado A., Lacruz-Pérez, Irene, Arenas-Fenollar, M. Carmen, Tárraga-Mínguez, Raúl

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Niakhar, mémoires et perspectives : Recherches pluridisciplinaires sur le changement en Afrique von Valérie Delaunay, Cheikh Sokhna, Alice Desclaux

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Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy von Trujillo-Tiebas, M J, Fenollar-Cortés, M, Gómez-Garré, P, Lorda-Sánchez, I, Serratosa, J M, Ayuso García, C

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Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases von Fenollar-Cortés, M, Lara-Orejas, E, González-Meneses, A, Ruibal-Francisco, J L, Trujillo-Tiebas, M J

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El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos von Fenollar-Cortés, M, Lara-Orejas, E, González-Meneses, A, Ruibal-Francisco, J.L, Trujillo-Tiebas, M.J

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Ocular Whipple's Disease: Therapeutic Strategy and Long-Term Follow-Up von Touitou, Valérie, MD, PhD, Fenollar, Florence, MD, PhD, Cassoux, Nathalie, MD, PhD, Merle-Beral, Helene, MD, PhD, LeHoang, Phuc, MD, PhD, Amoura, Zahir, MD, PhD, Drancourt, Michel, MD, PhD, Bodaghi, Bahram, MD, PhD

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P.18 - Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases von Gallano, P., Vieitez, I., Gonzalez-Quereda, L., Borrego, S., Marcos, I., Millan, J., Jaijo, T., Prior, C., Molano, J., Trujillo-Tiebas, M., Gallego-Merlo, J., Garcia-Barcina, M., Fenollar-Cortés, M., Navarro, C.

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in von Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.

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Mutational spectrum of Duchenne muscular dystrophy in Spain : Study of 284 cases Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos von Vieitez, I, Gallano, Pia, González-Quereda, Lidia, Borrego, S, Marcos, I, Millán, J.M, Jairo, T, Prior, C, Molano, J, Trujillo-Tiebas, M.J, Gallego-Merlo, J, García-Barcina, M, Fenollar, M, Navarro, Carmen, Universitat Autònoma de Barcelona

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Amphetamines signal through intracellular TAAR1 receptors coupled to Gα13 and GαS in discrete subcellular domains von Underhill, Suzanne M., Hullihen, Patrick D., Chen, Jingshan, Fenollar-Ferrer, Cristina, Rizzo, M. A., Ingram, Susan L., Amara, Susan G.

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The effect of maleinized linseed oil (MLO) on mechanical performance of poly(lactic acid)-thermoplastic starch (PLA-TPS) blends von Ferri, J.M., Garcia-Garcia, D., Sánchez-Nacher, L., Fenollar, O., Balart, R.

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Properties of biobased epoxy resins from epoxidized linseed oil (ELO) crosslinked with a mixture of cyclic anhydride and maleinized linseed oil von Samper, M. D., Ferri, J. M., Carbonell-Verdu, A., Balart, R., Fenollar, O.

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