학술논문
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'학술논문'
에서 검색결과 79건 | 목록
1~20
Academic Journal
Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, Agnès; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J; Billette de Villemeur, Thierry; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valérie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; de Saint-Martin, Anne; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie Ange; Le Caignec, Cédric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Häckl, Birgit; von Stülpnagel, Celina; Kluger, Gerhard; Møller, Rikke S.; Jonson, Tord; Soller, Maria; DDD Study
Human Genetics. 136(4):463-479
Academic Journal
Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica ; Haghshenas, Sadegheh ; Relator, Raissa ; Lauffer, Peter ; Vos, Niels ; Levy, Michael A. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Mignot, Cyril ; Keren, Boris ; de Villemeur, Thierry B. ; Volker-Touw, Catharina M.L. ; Verbeek, Nienke ; van der Smagt, Jasper J. ; Oegema, Renske ; Brusco, Alfredo ; Ferrero, Giovanni B. ; Misra-Isrie, Mala ; Hochstenbach, Ron ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Durizot, Meghane ; Burglen, Lydie ; Garel, Catherine ; Blondiaux, Eléonore ; Riquet, Audrey ; Floret, Valentine ; Desportes, Vincent ; Häänpaa, Maria ; Valenzuela, Maria Irene ; Pinto, Anna Maria ; Renieri, Alessandra ; Vanneste, Michiel ; Devriendt, Koen ; de Waele, Liesbeth ; Guilbaud, Lucie ; Jouannic, Jean-Marie ; Harion, Madeleine ; Billette de Villemeur, Thierry ; Rodriguez, Diana ; Lacaze, Emmanuelle ; Milh, Mathieu ; Cloarec, Robin ; Afenjar, Alexandra ; Héron, Delphine ; Mignot, Cyril ; Valence, Stéphanie
In Pediatric Neurology September 2025 170:49-57
Academic Journal
Rousseau, Marie-Christine ; Challe, Georges ; Charbonnier, Soizic ; Jacquier, Marie-Thérèse ; Valkov, Maria ; Tourbier, Valérie ; Lemaire, Sophie ; Guilluy, Etienne ; Khaldi-Cherif, Nafissa ; Nkam, Lionelle ; Baumstarck, Karine ; de Villemeur, Thierry Billette ; Aegerter, Philippe
In Annals of Physical and Rehabilitation Medicine February 2024 67(1)
Academic Journal
Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Peter Chang, Ta Chen; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K.-G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Wegner, Daniel; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan; Gahl, William; Johnson, Brett V. ; Kumar, Raman ; Oishi, Sabrina ; Alexander, Suzy ; Kasherman, Maria ; Vega, Michelle Sanchez ; Ivancevic, Atma ; Gardner, Alison ; Domingo, Deepti ; Corbett, Mark ; Parnell, Euan ; Yoon, Sehyoun ; Oh, Tracey ; Lines, Matthew ; Lefroy, Henrietta ; Kini, Usha ; Van Allen, Margot ; Grønborg, Sabine ; Mercier, Sandra ; Küry, Sébastien ; Bézieau, Stéphane ; Pasquier, Laurent ; Raynaud, Martine ; Afenjar, Alexandra ; Billette de Villemeur, Thierry ; Keren, Boris ; Désir, Julie ; Van Maldergem, Lionel ; Marangoni, Martina ; Dikow, Nicola ; Koolen, David A. ; VanHasselt, Peter M. ; Weiss, Marjan ; Zwijnenburg, Petra ; Sa, Joaquim ; Reis, Claudia Falcao ; López-Otín, Carlos ; Santiago-Fernández, Olaya ; Fernández-Jaén, Alberto ; Rauch, Anita ; Steindl, Katharina ; Joset, Pascal ; Goldstein, Amy ; Madan-Khetarpal, Suneeta ; Infante, Elena ; Zackai, Elaine ; Mcdougall, Carey ; Narayanan, Vinodh ; Ramsey, Keri ; Mercimek-Andrews, Saadet ; Pinto e Vairo, Filippo ; Pichurin, Pavel N. ; Ewing, Sarah A. ; Barnett, Sarah S. ; Klee, Eric W. ; Perry, M. Scott ; Koenig, Mary Kay ; Keegan, Catherine E. ; Schuette, Jane L. ; Asher, Stephanie ; Perilla-Young, Yezmin ; Smith, Laurie D. ; Bhoj, Elizabeth ; Kaplan, Paige ; Li, Dong ; Oegema, Renske ; van Binsbergen, Ellen ; van der Zwaag, Bert ; Smeland, Marie Falkenberg ; Cutcutache, Ioana ; Page, Matthew ; Armstrong, Martin ; Lin, Angela E. ; Steeves, Marcie A. ; Hollander, Nicolette den ; Hoffer, Mariëtte J.V. ; Reijnders, Margot R.F. ; Demirdas, Serwet ; Koboldt, Daniel C. ; Bartholomew, Dennis ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Shieh, Christine ; Sanchez-Lara, Pedro A. ; Graham, John M., Jr. ; Tezcan, Kamer ; Schaefer, G.B. ; Danylchuk, Noelle R. ; Asamoah, Alexander ; Jackson, Kelly E. ; Yachelevich, Naomi ; Au, Margaret ; Pérez-Jurado, Luis A. ; Kleefstra, Tjitske ; Penzes, Peter ; Wood, Stephen A. ; Burne, Thomas ; Pierson, Tyler Mark ; Piper, Michael ; Gécz, Jozef ; Jolly, Lachlan A.
In Biological Psychiatry 15 January 2020 87(2):100-112
Academic Journal
Leroy, Tanguy ; Haddadou, S. ; Freihuber, C. ; Amalou, S. ; Bonheur, J. ; Valence, S. ; Nougues, M.C. ; Luciani, L. ; Nouet, J.P. ; Coiffier, C. ; Sellier, P. ; Julien, P. ; Grasset, J.C. ; Delvert, S. ; Gaulard, M. ; Belorgey, A. ; Si Abdelkader, H. ; Mathieu, S. ; Ardati, M. ; Kammache, I. ; Héron, B. ; Isapof, A. ; Afenjar, A. ; Maincent, K. ; Rodriguez, D. ; Doummar, D. ; Phan, M.H. ; Moutard, M.L. ; Willocq, D. ; Valkov, M. ; Teulade, J. ; Pietra, S. ; Grimont, E. ; Lenormand, S. ; Laracca, E. ; Aynie, V. ; Rousseau, Marie-Christine ; de Villemeur, Thierry Billette ; Khaldi-Cherif, Sherezad ; Brisse, Catherine ; Felce, Agnès ; Loundou, Anderson ; Baumstarck, Karine ; Auquier, Pascal
In Disability and Health Journal October 2019 12(4):657-664
Academic Journal
Khaikin, Yannay ; Sidky, Sarah ; Abdenur, Jose ; Anastasi, Arnaud ; Ballhausen, Diana ; Buoni, Sabrina ; Chan, Alicia ; Cheillan, David ; Dorison, Nathalie ; Goldenberg, Alice ; Goldstein, Jennifer ; Hofstede, Floris C. ; Jacquemont, Marie-Line ; Koeberl, Dwight D. ; Lion-Francois, Laurence ; Lund, Allan Meldgaard ; Mention, Karine ; Mundy, Helen ; O'Rourke, Declan ; Pitelet, Gaele ; Raspall-Chaure, Miquel ; Tassini, Maria ; Billette de Villemeur, Thierry ; Williams, Monique ; Salomons, Gajja S. ; Mercimek-Andrews, Saadet
In European Journal of Paediatric Neurology May 2018 22(3):369-379
Academic Journal
Chipeaux, Caroline ; de Person, Marine ; Burguet, Nathalie ; Billette de Villemeur, Thierry ; Rose, Christian ; Belmatoug, Nadia ; Héron, Sylvie ; Le Van Kim, Caroline ; Franco, Mélanie ; Moussa, Fathi
In Journal of Chromatography A 24 November 2017 1525:116-125
Academic Journal
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; D Arrigo, Stefano
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucionalde Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucionalde Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joande Déu
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,B , Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur , T B , Blair, E M, Bloom, M, Burlina, A B , Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B , Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B , Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B , Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, 'Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,B , Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur , T, Blair, E M, Bloom, M, Burlina, A B , Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B , Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B , Kara, B , Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B , Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B , Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, G I & D Arrigo, S 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.', American Journal of Medical Genetics. Part A, vol. 167A, no. 2. https://doi.org/10.1002/ajmg.a.36887
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,B , Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur , T, Blair, E M, Bloom, M, Burlina, A B , Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B , Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B , Kara, B , Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B , Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B , Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics-Part A, vol. 167A, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887
American Journal of Medical Genetics, Part A
r-FSJD. Repositorio Institucional
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r-FSJD: Repositorio Institucional
Fundació Sant Joan
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson,
American Journal of Medical Genetics, Part A
Academic Journal
Marsh, Ashley P. L.; Héron, Delphine; Edwards, Timothy J.; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A.; Mcgillivray, George; Mcilroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R.; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A.; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah E. M.; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attie-Bitach, Tania; Delatycki, Martin B.; Mandel, Jean-Louis; Amor, David J.; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H.; Leventer, Richard J.; Richards, Linda J.; Lockhart, Paul J.; Depienne, Christel
Nature Genetics, vol 49, iss 4
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Rice, Gillian; Park, Sehoon; Gavazzi, Francesco; Adang, Laura; Ayuk, Loveline; van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Rodero, Mathieu P; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette; Blumkin, Lubov; Boespflug‐tanguy, Odile; Briggs, Tracy; Brimble, Elise; Dale, Russell; Darin, Niklas; Debray, François‐guillaume; de Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre; Lev, Dorit; Levrat, Virginie; Livingston, John; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie‐christine; Oppermann, Ilena; Pérez‐dueñas, Belén; Popp, Bernt; Rodero, Mathieu; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; van Haren, Keith; Tomas Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer; Orcesi, Simona; Vanderver, Adeline; Hur, Sun; Crow, Yanick
Hum Mutat
Addi. Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
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Dipòsit Digitalde Documents de la UAB
Universitat Autònomade Barcelona
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billettede Villemeur , T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B , Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B , Popp, B , Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, ' Genetic and phenotypic spectrum associated with IFIH1 gain-of-function ', Human Mutation: Variation, Informatics and Disease . https://doi.org/10.1002/humu.23975
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billettede Villemeur , T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B , Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B , Popp, B , Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, 'Genetic and phenotypic spectrum associated with IFIH1 gain-of-function', Human Mutation. https://doi.org/10.1002/humu.23975
Human Mutation
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Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette
Human Mutation
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Passemard, Sandrine ; Verloes, Alain ; Billette de Villemeur, Thierry ; Boespflug-Tanguy, Odile ; Hernandez, Karen ; Laurent, Marion ; Isidor, Bertrand ; Alberti, Corinne ; Pouvreau, Nathalie ; Drunat, Séverine ; Gérard, Bénédicte ; El Ghouzzi, Vincent ; Gallego, Jorge ; Elmaleh-Bergès, Monique ; Huttner, Wieland B. ; Eliez, Stephan ; Gressens, Pierre ; Schaer, Marie
In Cortex January 2016 74:158-176
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Mignot, Cyril ; Héron, Delphine ; Bursztyn, Joseph ; Momtchilova, Marta ; Mayer, Michèle ; Whalen, Sandra ; Legall, Anne ; Billette de Villemeur, Thierry ; Burglen, Lydie
In Brain and Development February 2013 35(2):172-176
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Sara Gonçalves; Julie Patat; Maria Clara Guida; Noelle Lachaussée; Christelle Arrondel; Martin Helmstädter; Olivia Boyer; Olivier Gribouval; Marie-Claire Gubler; Geraldine Mollet; Marlène Rio; Marina Charbit; Christine Bole-Feysot; Patrick Nitschke; Tobias B Huber; Patricia G Wheeler; Devon Haynes; Jane Juusola; Thierry Billette de Villemeur; Caroline Nava; Alexandra Afenjar; Boris Keren; Rolf Bodmer; Corinne Antignac; Matias Simons
PLoS Genetics, Vol 14, Iss 10, p e1007748 (2018)
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Sara Gonçalves; Julie Patat; Maria Clara Guida; Noelle Lachaussée; Christelle Arrondel; Martin Helmstädter; Olivia Boyer; Olivier Gribouval; Marie-Claire Gubler; Geraldine Mollet; Marlène Rio; Marina Charbit; Christine Bole-Feysot; Patrick Nitschke; Tobias B Huber; Patricia G Wheeler; Devon Haynes; Jane Juusola; Thierry Billette de Villemeur; Caroline Nava; Alexandra Afenjar; Boris Keren; Rolf Bodmer; Corinne Antignac; Matias Simons
PLoS Genetics, Vol 14, Iss 5, p e1007386 (2018)
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Micol, Romain ; Ben Slama, Lilia ; Suarez, Felipe ; Le Mignot, Loïc ; Beauté, Julien ; Mahlaoui, Nizar ; Dubois d’Enghien, Catherine ; Laugé, Anthony ; Hall, Janet ; Couturier, Jérôme ; Vallée, Louis ; Delobel, Bruno ; Rivier, François ; Nguyen, Karine ; Billette de Villemeur, Thierry ; Stephan, Jean-Louis ; Bordigoni, Pierre ; Bertrand, Yves ; Aladjidi, Nathalie ; Pedespan, Jean-Michel ; Thomas, Caroline ; Pellier, Isabelle ; Koenig, Michel ; Hermine, Olivier ; Picard, Capucine ; Moshous, Despina ; Neven, Bénédicte ; Lanternier, Fanny ; Blanche, Stéphane ; Tardieu, Marc ; Debré, Marianne ; Fischer, Alain ; Stoppa-Lyonnet, Dominique
In The Journal of Allergy and Clinical Immunology March 2011
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Hamouda, Ilyes ; Rousseau, Marie-Christine ; Aim, Marie-Anastasie ; Anzola, Any Beltran ; Loundou, Anderson ; De Villemeur, Thierry Billette ; Auquier, Pascal ; Baumstarck, Karine
In Annals of Physical and Rehabilitation Medicine February 2023 66(1)
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Kraoua, Ichraf ; Sedel, Frédéric ; Caillaud, Catherine ; Froissart, Roseline ; Stirnemann, Jérôme ; Chaurand, Guy ; Flodrops, Hugues ; Tari, Saliha ; Gourfinkel-An, Isabelle ; Mathieu, Sophie ; Belmatoug, Nadia ; Billette de Villemeur, Thierry ; Mignot, Cyril
In Brain and Development 2011 33(2):131-139
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Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C.; Deciphering Dev Disorders Study
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In Brain and Development 2006 28(1):39-48
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