VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy von Marcos, Ana T., Martín‐Doncel, Elena, Morejón‐García, Patricia, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluis, Navarro‐Pando, José M., Lazo, Pedro A.

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Molecular Variants of Soluble Guanylyl Cyclase Affecting Cardiovascular Risk von Wobst, Jana, Rumpf, Philipp Moritz, Dang, Tan An, Segura-Puimedon, Maria, Erdmann, Jeanette, Schunkert, Heribert

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Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome von Campuzano, Victoria, Segura-Puimedon, Maria, Terrado, Verena, Sánchez-Rodríguez, Carolina, Coustets, Mathilde, Menacho-Márquez, Mauricio, Nevado, Julián, Bustelo, Xosé R, Francke, Uta, Pérez-Jurado, Luis A

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Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene von Frigola, Gerard, del Rincón, Olga Gómez, Florián, Virginia Borobio, Fita, Anna Vallmajó, Campos, Berta, Pauta, Montse, Puimedon, Maria Segura, Oliva, Rafael, Borrell, Antoni, Nadal, Alfons

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Metabolic abnormalities in Williams–Beuren syndrome von Palacios-Verdú, María Gabriela, Segura-Puimedon, Maria, Borralleras, Cristina, Flores, Raquel, Del Campo, Miguel, Campuzano, Victoria, Pérez-Jurado, Luis Alberto

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Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder von Segura-Puimedon, Maria, Sahún, Ignasi, Velot, Emilie, Dubus, Pierre, Borralleras, Cristina, Rodrigues, Ana J, Valero, María C, Valverde, Olga, Sousa, Nuno, Herault, Yann, Dierssen, Mara, Pérez-Jurado, Luis A, Campuzano, Victoria

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Proatherosclerotic Effect of the α1-Subunit of Soluble Guanylyl Cyclase by Promoting Smooth Muscle Phenotypic Switching von Segura-Puimedon, Maria, Mergia, Evanthia, Al-Hasani, Jaafar, Aherrahrou, Redouane, Stoelting, Stephanie, Kremer, Felix, Freyer, Jennifer, Kösling, Doris, Erdmann, Jeanette, Schunkert, Heribert, de Wit, Cor, Aherrahrou, Zouhair

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Further delineation of the phenotype caused by loss of function mutations in PRMT7 von Valenzuela, Irene, Segura-Puimedon, Maria, Rodríguez-Santiago, Benjamín, Fernández-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluís, Tizzano, Eduardo

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Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses von Pauta, Montse, Campos, Berta, Segura-Puimedon, Maria, Arca, Gemma, Nadal, Alfons, Tubau, Albert, Perez, Silvia Pina, Marimon, Edda, Martín, Lourdes, López-Quesada, Eva, Sabrià, Joan, Muñoz, Begoña, Garcia, Esperanza, Paz Y. Miño, Fernanda, Borobio, Virginia, Gomez, Olga, Eixarch, Elisenda, Lopez, Monica, Comas Rovira, Montserrat, Borrell, Antoni

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TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif von Segura-Puimedon, Maria, Borralleras, Cristina, Pérez-Jurado, Luis A., Campuzano, Victoria

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Abstract 14092: Reduction of Atherosclerosis in Gucy1a3 Deficient Mice von Segura Puimedon, Maria, Mergia, Evanthia, Al-Hasani, Jaafar, Aherrahrou, Redouane, Freyer, Jennifer, de Wit, Cor, Kösling, Doris, Schunkert, Heribert, Erdmann, Jeanette, Aherrahrou, Zouhair

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Metabolic abnormalities in Williams-Beuren syndrome von Palacios Verdú, María Gabriela, 1983, Segura Puimedon, Maria, 1985, Borralleras Fumaña, Cristina, 1988, Flores, Raquel, Campo Casanelles, Miguel del, 1966, Campuzano Uceda, María Victoria, Pérez Jurado, Luis Alberto

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Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome von Campuzano Uceda, María Victoria, Segura Puimedon, Maria, 1985, Terrado, Verena, Sánchez Rodríguez, Carolina, Coustets, Mathilde, Menacho Márquez, Mauricio, Nevado, Julián, Francke, Uta, Pérez Jurado, Luis Alberto

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Essential role of the N-terminal region of TFII-I in viability and behavior von Lucena, Jaume, Pezzi, Susana, Aso, Ester, Valero, Maria C, Carreiro, Candelas, Dubus, Pierre, Sampaio, Adriana, Segura, Maria, Barthelemy, Isabel, Zindel, Marc Y, Sousa, Nuno, Barbero, José L, Maldonado, Rafael, Pérez-Jurado, Luis A, Campuzano, Victoria

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Use of mouse models to establish genotype-phenotype correlations in Williams-Beuren syndrome von Segura Puimedon, Maria

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Essential role of the N-terminal region of TFII-I in viability and behavior von Lucena, Jaume, Pezzi, Susana, Aso Pérez, Ester, Valero, Maria C, Carreiro, Candelas, Dubus, Pierre, Sampaio, Adriana, Segura Puimedon, Maria, 1985, Barthelemy, Isabel, Zindel, Marc Y, Sousa, Nuno, Barbero, José L, Maldonado, Rafael, 1961, Pérez Jurado, Luis Alberto, Campuzano Uceda, María Victoria

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Highway construction in Wireless Sensor Networks von Segura Puimedon, Antoni

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