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Items: 1 to 20 of 56

1.
Cheng‐Yen Kuo, Meng‐Han Tsai, Hsi‐Hsien Lin, Yu‐Chi Wang, Abhishek Kumar Singh, Chin‐Chen Chang, Jainn‐Jim Lin, Po‐Cheng Hung, Kuang‐Lin Lin
Epilepsia Open. 2023 Mar; 8(1): 154–164. Published online 2023 Jan 11. doi: 10.1002/epi4.12685
PMCID:
PMC9977754
2.
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan
Genes (Basel) 2023 Jan; 14(1): 108. Published online 2022 Dec 29. doi: 10.3390/genes14010108
PMCID:
PMC9859306
3.
Astha Singh, Hardeep Singh Malhotra, Adarsh Tripathi, Sujita Kumar Kar
Indian J Psychol Med. 2018 Mar-Apr; 40(2): 186–188. doi: 10.4103/IJPSYM.IJPSYM_159_17
PMCID:
PMC6008994
4.
Humaira Aziz Sawal, Ricardo Harripaul, Anna Mikhailov, Kayla Vleuten, Farooq Naeem, Tanveer Nasr, Muhammad Jawad Hassan, John B. Vincent, Muhammad Ayub, Muhammad Arshad Rafiq
J Pediatr Genet. 2018 Jun; 7(2): 60–66. Published online 2017 Dec 21. doi: 10.1055/s-0037-1612591
PMCID:
PMC5916802
5.
Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi-Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean-François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison Goetsch, Beth Martin, Evan August Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2015 Dec; 14(12): 1182–1195. Published online 2015 Oct 29. doi: 10.1016/S1474-4422(15)00278-1
PMCID:
PMC4672724
6.
Alistair T. Pagnamenta, Malcolm F. Howard, Eva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, Phillip Cox, Tamas Balla, Jenny C. Taylor, Usha Kini
Hum Mol Genet. 2015 Jul 1; 24(13): 3732–3741. Published online 2015 Apr 8. doi: 10.1093/hmg/ddv117
PMCID:
PMC4459391
7.
Elena Parrini, Anna Rita Ferrari, Thomas Dorn, Christopher A. Walsh, Renzo Guerrini
Epilepsia.
Published in final edited form as: Epilepsia. 2009 Jun; 50(6): 1344–1353. Published online 2008 Oct 6. doi: 10.1111/j.1528-1167.2008.01787.x
PMCID:
PMC4271835
8.
Rong Luo, Hye Min Yang, Zhaohui Jin, Dicky JJ Halley, Bernard S. Chang, Lesley MacPherson, Louise Brueton, Xianhua Piao
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2011 Jul; 45(1): 49–53. doi: 10.1016/j.pediatrneurol.2011.02.004
PMCID:
PMC3135102
9.
Nien-Yi Chiang, Cheng-Chih Hsiao, Yi-Shu Huang, Hsin-Yi Chen, I-Ju Hsieh, Gin-Wen Chang, Hsi-Hsien Lin
J Biol Chem. 2011 Apr 22; 286(16): 14215–14225. Published online 2011 Feb 24. doi: 10.1074/jbc.M110.183830
PMCID:
PMC3077623
10.
Annemieke J.M.H. Verkerk, Rachel Schot, Laura van Waterschoot, Hannie Douben, Pino J. Poddighe, Maarten H. Lequin, Linda S. de Vries, Paulien Terhal, Johanne M.D. Hahnemann, Irenaeus F.M. de Coo, Marie-Claire Y. de Wit, Leontien S. Wafelman, Livia Garavelli, William B. Dobyns, Peter J. Van der Spek, Annelies de Klein, Grazia M.S. Mancini
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2010 Jun; 152A(6): 1488–1497. doi: 10.1002/ajmg.a.33408
PMCID:
PMC2908594
11.
Annapurna Poduri, Vida Chitsazzadeh, Stefano D’Arrigo, Ermellina Fedrizzi, Chiara Pantaleoni, Daria Riva, Claudia Busse, Helmut Küster, Adre Duplessis, John Gaitanis, Mustafa Sahin, Cheryl Garganta, Meral Topcu, Kira A. Dies, Brenda J. Barry, Jennifer Partlow, A. James Barkovich, Christopher A. Walsh, Bernard S. Chang
Brain Dev.
Published in final edited form as: Brain Dev. 2010 Aug; 32(7): 550–555. Published online 2009 Sep 13. doi: 10.1016/j.braindev.2009.08.005
PMCID:
PMC2888893
12.
Xianhua Piao, Lina Basel-Vanagaite, Rachel Straussberg, P. Ellen Grant, Elizabeth W. Pugh, Kim Doheny, Betty Doan, Susan E. Hong, Yin Yao Shugart, Christopher A. Walsh
Am J Hum Genet. 2002 Apr; 70(4): 1028–1033. Published online 2002 Feb 13. doi: 10.1086/339552
PMCID:
PMC379097
13.
Laurent Villard, Karine Nguyen, Carlos Cardoso, Christa Lese Martin, Ann M. Weiss, Mara Sifry-Platt, Arthur W. Grix, John M. Graham, Jr., Robin M. Winter, Richard J. Leventer, William B. Dobyns
Am J Hum Genet. 2002 Apr; 70(4): 1003–1008. Published online 2002 Jan 29. doi: 10.1086/339433
PMCID:
PMC379093
14.
Colombine Meunier, Marie Cassart, Karole Kostyla, Nicolas Simonis, Olivier Monestier, Aude Tessier
Childs Nerv Syst. 2024; 40(5): 1597–1602. Published online 2024 Jan 12. doi: 10.1007/s00381-024-06285-z
PMCID:
PMC11026260
15.
Epilepsy Phenome/Genome Project, Epi4K Consortium
Epilepsia.
Published in final edited form as: Epilepsia. 2021 Apr; 62(4): 973–983. Published online 2021 Apr 5. doi: 10.1111/epi.16854
PMCID:
PMC10838185
16.
Michal Gafner, Marina Michelson, Emanuela Argilli, Keren Yosovich, Elliott H. Sherr, Kendall C. Parks, Eleina M. England, Ronen Hady-Cohen, Zvi Leibovitz, Dorit Lev, Yael Michaeli-Yosef, Tally Lerman-Sagie, Lubov Blumkin
J Hum Genet.
Published in final edited form as: J Hum Genet. 2022 Feb; 67(2): 95–101. Published online 2021 Aug 16. doi: 10.1038/s10038-021-00971-5
PMCID:
PMC10256137
17.
Fabiana Vercellino, Laura Siri, Giacomo Brisca, Marcello Scala, Antonella Riva, Mariasavina Severino, Pasquale Striano
Ital J Pediatr. 2021; 47: 137. Published online 2021 Jun 12. doi: 10.1186/s13052-021-01051-2
PMCID:
PMC8199818
18.
Christopher C Y Mak, Dan Doherty, Angela E Lin, Nancy Vegas, Megan T Cho, Géraldine Viot, Clémantine Dimartino, James D Weisfeld-Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga-Jauregui, Yuri A Zarate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G Kant, Youngha Lee, Gisele E Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G Mehaffey, Pierre-Marie Martin, Benjamin Apple, Francisca Millan, Oliver Puk, Mariette J V Hoffer, Lindsay B Henderson, Ruth McGowan, Ingrid M Wentzensen, Steven Pei, Farah R Zahir, Mullin Yu, William T Gibson, Ann Seman, Marcie Steeves, Jill R Murrell, Sabine Luettgen, Elizabeth Francisco, Tim M Strom, Louise Amlie-Wolf, Angela M Kaindl, William G Wilson, Sara Halbach, Lina Basel-Salmon, Noa Lev-El, Jonas Denecke, Lisenka E L M Vissers, Kelly Radtke, Jamel Chelly, Elaine Zackai, Jan M Friedman, Michael J Bamshad, Deborah A Nickerson, University of Washington Center for Mendelian Genomics, Russell R Reid, Koenraad Devriendt, Jong-Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Y Tan, Naama Orenstein, William B Dobyns, Joseph T Shieh, Murim Choi, Darrel Waggoner, Karen W Gripp, Michael J Parker, Joan Stoler, Stanislas Lyonnet, Valérie Cormier-Daire, David Viskochil, Trevor L Hoffman, Jeanne Amiel, Brian H Y Chung, Christopher T Gordon
Brain. 2020 Jan; 143(1): 55–68. Published online 2019 Dec 13. doi: 10.1093/brain/awz379
PMCID:
PMC7962909
19.
Bilal El Waly, Cécile Mignon-Ravix, Pierre Cacciagli, Emmanuelle Buhler, Bruria ben Zeev, Laurent Villard
Eur J Hum Genet. 2020 Dec; 28(12): 1703–1713. Published online 2020 Jun 2. doi: 10.1038/s41431-020-0659-z
PMCID:
PMC7784979
20.
Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D’Amico, Nicola Brunetti‐Pierri
Mol Genet Genomic Med. 2019 Jun; 7(6): e708. Published online 2019 May 6. doi: 10.1002/mgg3.708
PMCID:
PMC6565554

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