检索结果 - Concepción Sierra

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  1. 1
    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases 由 Elena Martín‐Hernández, Luis Aldámiz‐Echevarría, E. Castejón-Ponce, Consuelo Pedrón‐Giner, María L. Couce, Juliana Serrano-Nieto, Guillem Pintos‐Morell, Amaya Bélanger-Quintana, Mercedes Martínez‐Pardo, María Teresa García‐Silva, Pilar Quijada‐Fraile, Isidro Vitoria, Jaime Dalmau, Rosa A. Lama‐More, María Amor Bueno-Delgado, Mirella del Toro-Riera, Inmaculada García‐Jiménez, Concepción Sierra-Córcoles, Mónica Ruiz‐Pons, Luis Peña Quintana, Inmaculada Vives‐Piñera, Ana Heloneida de Araújo Morais, Elena Balmaseda‐Serrano, Silvia Meavilla, Pablo Sanjurjo-Crespo, Celia Pérez‐Cerdá

    出版 2014
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  2. 2
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... 由 Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    出版 2015
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  3. 3
    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis 由 Thaís Armangué, Marianna Spatola, Alexandru Vlagea, Simone Mattozzi, Marc Cárceles-Cordon, Eloy Martínez‐Heras, Sara Llufriú, Jordi Muchart, María Elena Erro, Laura Abraira, Germán Morís, Luis Monros-Giménez, Íñigo Corral, Carmen Montejo, Manuel Toledo, Luís Bataller, Gabriela Secondi, Helena Ariño, Eugenia Martínez‐Hernández, Manel Juan, María Ángeles Marcos, Laia Alsina, Albert Saiz, Myrna R. Rosenfeld, Francesc Graus, Josep Dalmau, Sergio Aguilera, Alfonso Amado Puentes, Antonio Arjona Padillo, Luisa Arrabal, Izascun Arratibel, Gemma Aznar-Laín, Paula Bellas-Lamas, Teresa de Jesús Bermejo, Sabas Boyero-Durán, Ana Camacho, Andrea Campo, Dulce Campos, Verónica Cantarín Extremera, Cristóbal Carnero Pardo, David Conejo-Moreno, Marta Dapena, David Dacruz-Álvarez, Verónica Delgadillo-Chilavert, Àngela Deyà‐Martínez, Jordi Estela-Herrero, A. de Felipe, Elisa Fernández-Cooke, Joaquín Alejandro Fernández‐Ramos, Clàudia Fortuny, Juan Carlos García‐Moncó, Teresa Gili, Verónica González-Álvarez, Robert Güerri, Sara Guillén, Antonio Hedrera-Fernández, María López, Eduardo López‐Laso, María Lorenzo-Ruiz, Marcos Madruga, Ignacio Málaga, Itxaso Martí, Xavier Martínez-Lacasa, Lucía Martín-Viota, Leticia Martín Gil, María-Jesús Martínez-González, Antía Moreira, María Concepción Miranda-Herrero, L. Monge Galindo, Beatriz Muñoz‐Cabello, Juan Navarro‐Morón, Olaf Neth, Antoni Noguera‐Julián, Noemí Núñez‐Enamorado, Virginia Pomar, Juan C Portillo-Cuenca, M.S. Perez Poyato, Luís Prieto, Luís Querol, Eloy Rodríguez‐Rodríguez, Silvana Sarria‐Estrada, Concepción Sierra, Pere Soler‐Palacín, Víctor Soto-Insuga, Laura Toledo-Bravo, Miguel Tomás Vila, Carmen Torres-Torres, Eulàlia Turón-Viñas, Ana Zabalza

    出版 2018
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  4. 4
    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome 由 Gillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie

    出版 2007
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  5. 5
    Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 由 Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D’Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

    出版 2015
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