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Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. [electronic resource] by
- Rice, Gillian I
- Reijns, Martin A M
- Coffin, Stephanie R
- Forte, Gabriella M A
- Anderson, Beverley H
- Szynkiewicz, Marcin
- Gornall, Hannah
- Gent, David
- Leitch, Andrea
- Botella, Maria P
- Fazzi, Elisa
- Gener, Blanca
- Lagae, Lieven
- Olivieri, Ivana
- Orcesi, Simona
- Swoboda, Kathryn J
- Perrino, Fred W
- Jackson, Andrew P
- Crow, Yanick J
Producer: 20140122
In:
Human mutation vol. 34
Availability: No items available.
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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. [electronic resource] by
- Rice, Gillian I
- Kasher, Paul R
- Forte, Gabriella M A
- Mannion, Niamh M
- Greenwood, Sam M
- Szynkiewicz, Marcin
- Dickerson, Jonathan E
- Bhaskar, Sanjeev S
- Zampini, Massimiliano
- Briggs, Tracy A
- Jenkinson, Emma M
- Bacino, Carlos A
- Battini, Roberta
- Bertini, Enrico
- Brogan, Paul A
- Brueton, Louise A
- Carpanelli, Marialuisa
- De Laet, Corinne
- de Lonlay, Pascale
- del Toro, Mireia
- Desguerre, Isabelle
- Fazzi, Elisa
- Garcia-Cazorla, Angels
- Heiberg, Arvid
- Kawaguchi, Masakazu
- Kumar, Ram
- Lin, Jean-Pierre S-M
- Lourenco, Charles M
- Male, Alison M
- Marques, Wilson
- Mignot, Cyril
- Olivieri, Ivana
- Orcesi, Simona
- Prabhakar, Prab
- Rasmussen, Magnhild
- Robinson, Robert A
- Rozenberg, Flore
- Schmidt, Johanna L
- Steindl, Katharina
- Tan, Tiong Y
- van der Merwe, William G
- Vanderver, Adeline
- Vassallo, Grace
- Wakeling, Emma L
- Wassmer, Evangeline
- Whittaker, Elizabeth
- Livingston, John H
- Lebon, Pierre
- Suzuki, Tamio
- McLaughlin, Paul J
- Keegan, Liam P
- O'Connell, Mary A
- Lovell, Simon C
- Crow, Yanick J
Producer: 20130404
In:
Nature genetics vol. 44
Availability: No items available.
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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. [electronic resource] by
- Rice, Gillian I
- Forte, Gabriella M A
- Szynkiewicz, Marcin
- Chase, Diana S
- Aeby, Alec
- Abdel-Hamid, Mohamed S
- Ackroyd, Sam
- Allcock, Rebecca
- Bailey, Kathryn M
- Balottin, Umberto
- Barnerias, Christine
- Bernard, Genevieve
- Bodemer, Christine
- Botella, Maria P
- Cereda, Cristina
- Chandler, Kate E
- Dabydeen, Lyvia
- Dale, Russell C
- De Laet, Corinne
- De Goede, Christian G E L
- Del Toro, Mireia
- Effat, Laila
- Enamorado, Noemi Nunez
- Fazzi, Elisa
- Gener, Blanca
- Haldre, Madli
- Lin, Jean-Pierre S-M
- Livingston, John H
- Lourenco, Charles Marques
- Marques, Wilson
- Oades, Patrick
- Peterson, Pärt
- Rasmussen, Magnhild
- Roubertie, Agathe
- Schmidt, Johanna Loewenstein
- Shalev, Stavit A
- Simon, Rogelio
- Spiegel, Ronen
- Swoboda, Kathryn J
- Temtamy, Samia A
- Vassallo, Grace
- Vilain, Catheline N
- Vogt, Julie
- Wermenbol, Vanessa
- Whitehouse, William P
- Soler, Doriette
- Olivieri, Ivana
- Orcesi, Simona
- Aglan, Mona S
- Zaki, Maha S
- Abdel-Salam, Ghada M H
- Vanderver, Adeline
- Kisand, Kai
- Rozenberg, Flore
- Lebon, Pierre
- Crow, Yanick J
Producer: 20140114
In:
The Lancet. Neurology vol. 12
Availability: No items available.
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. [electronic resource] by
- 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
- Carpanelli, Maria Luisa
- 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 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
- 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
- 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
- te Water Naude, Johann
- Wee Teik, Keng
- 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
Producer: 20150916
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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