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Items: 11

1.
J. Takanashi, H. Arai, S. Nabatame, S. Hirai, S. Hayashi, J. Inazawa, N. Okamoto, A. J. Barkovich
AJNR Am J Neuroradiol.
Published in final edited form as: AJNR Am J Neuroradiol. 2010 Oct; 31(9): 1619–1622. Published online 2010 Jul 1. doi: 10.3174/ajnr.A2173
PMCID:
PMC3756090
2.
Rashid Saleem, Gururaj Setty, Nahin Hussain
Indian J Hum Genet. 2013 Jan-Mar; 19(1): 104–107. doi: 10.4103/0971-6866.112921
PMCID:
PMC3722619
3.
Rachel J. Watkins, Rajashree Patil, Benjamin T. Goult, Mervyn G. Thomas, Irene Gottlob, Sue Shackleton
Hum Mol Genet. 2013 May 15; 22(10): 2105–2118. Published online 2013 Feb 12. doi: 10.1093/hmg/ddt060
PMCID:
PMC3633374
4.
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez
Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18
PMCID:
PMC3351739
5.
Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz
Am J Hum Genet. 2012 Apr 6; 90(4): 579–590. doi: 10.1016/j.ajhg.2012.02.018
PMCID:
PMC3322227
6.
Chan-Ying Zheng, Gail K. Seabold, Martin Horak, Ronald S. Petralia
Neuroscientist.
Published in final edited form as: Neuroscientist. 2011 Oct; 17(5): 493–512. Published online 2011 Apr 15. doi: 10.1177/1073858410386384
PMCID:
PMC3191319
7.
Anna Hackett, Patrick S Tarpey, Andrea Licata, James Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, Michael Partington, Roger E Stevenson, John Tolmie, John RW Yates, Gillian Turner, Meredith Wilson, Andrew P Futreal, Mark Corbett, Marie Shaw, Jozef Gecz, F Lucy Raymond, Michael R Stratton, Charles E Schwartz, Fatima E Abidi
Eur J Hum Genet. 2010 May; 18(5): 544–552. Published online 2009 Dec 23. doi: 10.1038/ejhg.2009.220
PMCID:
PMC2987321
8.
Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan P M de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers, Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz, F Lucy Raymond, P Andrew Futreal, Michael R Stratton
Nat Genet.
Published in final edited form as: Nat Genet. 2009 May; 41(5): 535–543. Published online 2009 Apr 19. doi: 10.1038/ng.367
PMCID:
PMC2872007
9.
Giulio Piluso, Francesca D'Amico, Valentina Saccone, Ettore Bismuto, Ida Luisa Rotundo, Marina Di Domenico, Stefania Aurino, Charles E. Schwartz, Giovanni Neri, Vincenzo Nigro
Am J Hum Genet. 2009 Feb 13; 84(2): 162–177. doi: 10.1016/j.ajhg.2008.12.018
PMCID:
PMC2668001
10.
Mitsuhiro  Kato, Shinji  Saitoh, Atsushi  Kamei, Hideaki  Shiraishi, Yuki  Ueda, Manami  Akasaka, Jun  Tohyama, Noriyuki  Akasaka, Kiyoshi  Hayasaka
Am J Hum Genet. 2007 Aug; 81(2): 361–366. Published online 2007 Jun 11. doi: 10.1086/518903
PMCID:
PMC1950814
11.
Deniz Atasoy, Susanne Schoch, Angela Ho, Krisztina A. Nadasy, Xinran Liu, Weiqi Zhang, Konark Mukherjee, Elena D. Nosyreva, Rafael Fernandez-Chacon, Markus Missler, Ege T. Kavalali, Thomas C. Südhof
Proc Natl Acad Sci U S A. 2007 Feb 13; 104(7): 2525–2530. Published online 2007 Feb 7. doi: 10.1073/pnas.0611003104
PMCID:
PMC1892970

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