Søgeresultater - Manuel Castro‐Gago
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders af Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda, Jesús Manuel Eirís Puñal, María L. Couce, Manuel Castro‐Gago, José M. Fraga, Lúcia Lacerda, Sofía Gouveia, María Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, José A. Cocho
Udgivet 2014Artigo -
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration af Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen
Udgivet 2012Artigo -
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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<... af 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
Udgivet 2015Artigo
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