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Items: 1 to 20 of 51

1.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
2.
Ingrid E. Scheffer, Caitlin A. Bennett, Deepak Gill, Michelle G. de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Australian Genomics DEE Flagship , Elizabeth E. Palmer, Katherine B. Howell
Dev Med Child Neurol. 2023 Jan; 65(1): 50–57. Published online 2022 Jun 14. doi: 10.1111/dmcn.15308
PMCID:
PMC10952465
3.
Grant F. Marshall, Melissa Fasol, Faith C. J. Davies, Matthew Le Seelleur, Alejandra Fernandez Alvarez, Cavan Bennett-Ness, Alfredo Gonzalez-Sulser, Catherine M. Abbott
Dis Model Mech. 2024 Jun 1; 17(6): dmm050501. Published online 2024 Feb 2. doi: 10.1242/dmm.050501
PMCID:
PMC10855229
4.
Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Ruan
Epilepsia Open. 2024 Feb; 9(1): 33–40. Published online 2023 Nov 28. doi: 10.1002/epi4.12856
PMCID:
PMC10839296
5.
D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann
Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0
PMCID:
PMC10637019
6.
Sanghoon Lee, Bo Ram Kim, Young Ok Kim
Sci Prog. 2022 Oct-Dec; 105(4): 00368504221131233. Published online 2022 Oct 11. doi: 10.1177/00368504221131233
PMCID:
PMC10481157
7.
Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235
PMCID:
PMC10472491
8.
Congjie Chen, Ningning Chen, Li Xie, Yuanyuan Luo, Jiannan Ma, Tingsong Li
Epilepsia Open. 2023 Sep; 8(3): 1133–1141. Published online 2023 Jul 28. doi: 10.1002/epi4.12794
PMCID:
PMC10472363
9.
Matteo Lenge, Simona Balestrini, Davide Mei, Letizia Macconi, Maria Eugenia Caligiuri, Valeria Cuccarini, Domenico Aquino, Federica Mazzi, Ludovico d’Incerti, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Cereb Cortex. 2023 Aug 15; 33(16): 9532–9541. Published online 2023 Jun 21. doi: 10.1093/cercor/bhad224
PMCID:
PMC10431750
10.
Jiwon Lee, Young Ok Kim, Byung Chan Lim, Jeehun Lee
Epilepsia Open. 2023 Jun; 8(2): 436–443. Published online 2023 Feb 20. doi: 10.1002/epi4.12708
PMCID:
PMC10235569
11.
Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Hilde M H Braakman, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie Cecile Nassogne, Anne Destrée, An Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller
Brain. 2022 Sep; 145(9): 2991–3009. Published online 2021 Aug 25. doi: 10.1093/brain/awab321
PMCID:
PMC10147326
12.
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Genes (Basel) 2023 Apr; 14(4): 852. Published online 2023 Mar 31. doi: 10.3390/genes14040852
PMCID:
PMC10138066
13.
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Am J Hum Genet. 2023 Apr 6; 110(4): 681–690. Published online 2023 Mar 29. doi: 10.1016/j.ajhg.2023.03.005
PMCID:
PMC10119151
14.
Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri
Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001
PMCID:
PMC9749570
15.
Jennifer A. Kearney, Letonia D. Copeland-Hardin, Samantha Duarte, Nicole A. Zachwieja, Isaiah K. Eckart-Frank, Nicole A. Hawkins
Mamm Genome. 2022; 33(4): 565–574. Published online 2022 May 23. doi: 10.1007/s00335-022-09955-y
PMCID:
PMC9616761
16.
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, The Epi4K Collaborative, Genomics England Research Consortium, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri, The Epi25 Collaborative
eBioMedicine. 2022 Jul; 81: 104098. Published online 2022 Jun 6. doi: 10.1016/j.ebiom.2022.104098
PMCID:
PMC9188960
17.
Line Skotte, João Fadista, Jonas Bybjerg-Grauholm, Vivek Appadurai, Michael S Hildebrand, Thomas F Hansen, Karina Banasik, Jakob Grove, Clara Albiñana, Frank Geller, Carmen F Bjurström, Bjarni J Vilhjálmsson, Matthew Coleman, John A Damiano, Rosemary Burgess, Ingrid E Scheffer, Ole Birger Vesterager Pedersen, Christian Erikstrup, David Westergaard, Kaspar René Nielsen, Erik Sørensen, Mie Topholm Bruun, Xueping Liu, Henrik Hjalgrim, Tune H Pers, Preben Bo Mortensen, Ole Mors, Merete Nordentoft, Julie W Dreier, Anders D Børglum, Jakob Christensen, David M Hougaard, Alfonso Buil, Anders Hviid, Mads Melbye, Henrik Ullum, Samuel F Berkovic, Thomas Werge, Bjarke Feenstra
Brain. 2022 Feb; 145(2): 555–568. Published online 2022 Jan 12. doi: 10.1093/brain/awab260
PMCID:
PMC9128543
18.
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Orphanet J Rare Dis. 2022; 17: 179. Published online 2022 May 3. doi: 10.1186/s13023-022-02288-8
PMCID:
PMC9066917
19.
Wanhao Chi, Atulya S. R. Iyengar, Wenqin Fu, Wei Liu, Abigayle E. Berg, Chun-Fang Wu, Xiaoxi Zhuang
Proc Natl Acad Sci U S A. 2022 Mar 1; 119(9): e2115524119. Published online 2022 Feb 25. doi: 10.1073/pnas.2115524119
PMCID:
PMC8892510
20.
Kuokuo Li, Zhenghuan Fang, Guihu Zhao, Bin Li, Chao Chen, Lu Xia, Lin Wang, Tengfei Luo, Xiaomeng Wang, Zheng Wang, Yi Zhang, Yi Jiang, Qian Pan, Zhengmao Hu, Hui Guo, Beisha Tang, Chunyu Liu, Zhongsheng Sun, Kun Xia, Jinchen Li
J Autism Dev Disord. 2022; 52(3): 1299–1313. Published online 2021 May 10. doi: 10.1007/s10803-021-05031-7
PMCID:
PMC8854168

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