检索结果 - Rogelio Simón

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  1. 1
    False-Positive PCR Detection of Tropheryma whipplei in Cerebrospinal Fluid and Biopsy Samples from a Child with Chronic Lymphocytic Meningitis

    False-Positive PCR Detection of Tropheryma whipplei in Cerebrospinal Fluid and Biopsy Samples from a Child with Chronic Lymphocytic Meningitis 由 Goyo, Daniel, Camacho, Ana, Gómez, Carmen, de las Heras, Rogelio Simón, Otero, Joaquín R., Chaves, Fernando

    出版 2009
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  2. 2
    Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

    Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population 由 López-Marín, Laura, Gutiérrez-Solana, Luis G., Azuara, Luis Aldamiz-Echevarria, de las Heras, Rogelio Simón, Rodríguez, Anna Duat, Extremera, Verónica Cantarín

    出版 2013
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  3. 3
    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients 由 Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Ma Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibáñez‐Micó, Ma Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Ma Llanos Carrasco, Feliciano J. Ramos, Ma Luz Couce, Ma Luz Ruiz-Falcó, Luis González Gutiérrez-Solana, Margarita Martínez-Atienza

    出版 2019
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    Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

    Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test 由 Ana Arteche‐López, Maria José Gómez-Rodríguez, María Teresa Sánchez‐Calvín, Juan Francisco Quesada‐Espinosa, José Miguel Lezana Rosales, Carmen Palma Milla, Irene Gómez-Manjón, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, A. Diaz De Bustamante, M. Teresa Darnaude, Belén Gil-Fournier, Soraya Ramiro León, Patricia Ramos Gómez, Olalla Sierra Tomillo, Alexandra Juárez Rufián, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Pérez, Alejandro Segura‐Tudela, Ana Camacho, Noemí Núñez, Rogelio Simón, Marta Moreno‐García, María Isabel Álvarez‐Mora

    出版 2021
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  5. 5
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study 由 Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    出版 2013
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