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

    Veröffentlicht in Lancet neurology

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    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 von Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, 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, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.


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    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 von Crow, Yanick J, Chase, Diana S, Lowenstein Schmidt, Johanna, 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, Billette de Villemeur, Thierry, Blair, Edward M, Bloom, Miriam, Burlina, Alberto B, Luisa Carpanelli, Maria, Carvalho, Daniel R, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E, Chitayat, David A, Collins, Abigail E, Sierra Corcoles, Concepcion, 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, 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, Piana, Roberta La, Lim, Ming J, Lin, Jean-Pierre S.-M, Linnankivi, Tarja, Mackay, Mark T, Marom, Daphna R, Marques Lourenço, Charles, 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


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