Search Results - Ciero, Milagros

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  1. 1
    Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

    Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome by Teresa-Rodrigo, María E, Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C, Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C, Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H, Ramos, Feliciano J, Gillessen-Kaesbach, Gabriele, Kaiser, Frank J, Pié, Juan

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    Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

    Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome by Pié, Juan, Gil-Rodríguez, María Concepción, Ciero, Milagros, López-Viñas, Eduardo, Ribate, María Pilar, Arnedo, María, Deardorff, Matthew A., Puisac, Beatriz, Legarreta, Jesús, de Karam, Juan Carlos, Rubio, Encarnación, Bueno, Inés, Baldellou, Antonio, Calvo, Mª Teresa, Casals, Nuria, Olivares, José Luis, Losada, Ana, Hegardt, Fausto G., Krantz, Ian D., Gómez-Puertas, Paulino, Ramos, Feliciano J.

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