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Items: 1 to 20 of 165

1.
Xing-Liang Yang, Xin Wang, Lin Shao, Guang-Tong Jiang, Jia-Wei Min, Xi-Yu Mei, Xiao-Hua He, Wan-Hong Liu, Wen-Xian Huang, Bi-Wen Peng
J Neuroinflammation. 2019; 16: 114. Published online 2019 May 29. doi: 10.1186/s12974-019-1487-3
PMCID:
PMC6540554
2.
Kenji Gonda, Takanori Akama, Takayuki Nakamura, Eiko Hashimoto, Naomi Kyoya, Yuichi Rokkaku, Yuko Maejima, Shoichiro Horita, Kazunoshin Tachibana, Noriko Abe, Tohru Ohtake, Kenju Shimomura, Koji Kono, Shigehira Saji, Seiichi Takenoshita, Eiji Higashihara
J Med Case Rep. 2019; 13: 381. Published online 2019 Dec 24. doi: 10.1186/s13256-019-2274-6
PMCID:
PMC6929341
3.
Karen G. C. B. Bindels‐de Heus, Sabine E. Mous, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Cindy Navis, André B. Rietman, Leontine W. ten Hoopen, Alice S. Brooks, ENCORE Expertise Center for AS, Ype Elgersma, Henriëtte A. Moll, Marie‐Claire Y. de Wit
Am J Med Genet A. 2020 Jan; 182(1): 53–63. Published online 2019 Nov 15. doi: 10.1002/ajmg.a.61382
PMCID:
PMC6916553
4.
Fangrui Wu, Ying Dai, Juan Wang, Min Cheng, Yanqin Wang, Xiujuan Li, Ping Yuan, Shuang Liao, Li Jiang, Jin Chen, Lisi Yan, Min Zhong
Mol Med Rep. 2019 Dec; 20(6): 5145–5151. Published online 2019 Oct 17. doi: 10.3892/mmr.2019.10757
PMCID:
PMC6854595
5.
Eric R. Wengert, Cathrine E. Tronhjem, Jacy L. Wagnon, Katrine M Johannesen, Hayley Petit, Ilona Krey, Anusha U. Saga, Payal S. Panchal, Samantha M. Strohm, Jörn Lange, Susanne B Kamphausen, Guido Rubboli, Johannes R. Lemke, Elena Gardella, Manoj K. Patel, Miriam H. Meisler, Rikke S. Møller
Epilepsia.
Published in final edited form as: Epilepsia. 2019 Nov; 60(11): 2277–2285. Published online 2019 Oct 17. doi: 10.1111/epi.16371
PMCID:
PMC6842408
6.
Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J. Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L. Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R. Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R. Rosen, Joelle Roume, Elsa Rossignol, Marleen E. H. Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P. Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S. Møller, Gaetan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne
Genet Med. 2019; 21(4): 837–849. Published online 2018 Sep 12. doi: 10.1038/s41436-018-0268-1
PMCID:
PMC6752297
7.
Elizabeth M. Powell, Daniel B. Campbell, Gregg D. Stanwood, Caleb Davis, Jeffrey L. Noebels, Pat Levitt
J Neurosci. 2003 Jan 15; 23(2): 622–631. doi: 10.1523/JNEUROSCI.23-02-00622.2003
PMCID:
PMC6741866
8.
Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter M. Krawitz
Am J Hum Genet. 2019 Aug 1; 105(2): 395–402. Published online 2019 Jul 25. doi: 10.1016/j.ajhg.2019.06.009
PMCID:
PMC6698879
9.
Alastair H. MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J. Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark Corbett, Xiaoyang Wang, Gareth Baynam, Darcy Fehlings, Manju A. Kurian, Changlian Zhu, Kate Himmelmann, Hayley Smithers-Sheedy, Yana Wilson, Carlos Santos Ocaña, Clare van Eyk, Nadia Badawi, Richard F. Wintle, Bo Jacobsson, David J. Amor, Carina Mallard, Luis A. Pérez-Jurado, Mikko Hallman, Peter J. Rosenbaum, Michael C. Kruer, Jozef Gecz
J Child Neurol. 2019 Jul; 34(8): 472–476. Published online 2019 Apr 9. doi: 10.1177/0883073819840449
PMCID:
PMC6582263
10.
Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Deciphering Developmental Disorders (DDD) Study, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Jr., Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan
Am J Hum Genet. 2019 Jun 6; 104(6): 1210–1222. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.021
PMCID:
PMC6556837
11.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
PMCID:
PMC6935753
12.
Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess-Walsh, Bryce A. Mendelsohn, Adam Numis, Maria R. Cilio, Wim Van Paesschen, Lene L. Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris V. Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard J. Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaetan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert
Neurology. 2019 Mar 12; 92(11): e1238–e1249. doi: 10.1212/WNL.0000000000007089
PMCID:
PMC6511102
13.
Rosalyn Hithersay, Carla M. Startin, Sarah Hamburg, Kin Y. Mok, John Hardy, Elizabeth M. C. Fisher, Victor L. J. Tybulewicz, Dean Nizetic, André Strydom
JAMA Neurol. 2019 Feb; 76(2): 152–160. Published online 2018 Nov 19. doi: 10.1001/jamaneurol.2018.3616
PMCID:
PMC6439956
14.
Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi
BMC Med Genet. 2019; 20: 16. Published online 2019 Jan 14. doi: 10.1186/s12881-019-0745-7
PMCID:
PMC6332862
15.
Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook, Paweł Lisowski, Bożena Kuźniewska, Krystyna Szymańska, Sebastian Diecke, Alessandro Prigione, Krzysztof Szczałuba, Aleksandra Szybińska, Agnieszka Koppolu, Victor Murcia Pienkowski, Joanna Kosińska, Małgorzata Wiweger, Grażyna Kostrzewa, Małgorzata Brzozowska, Dorota Domańska-Pakieła, Elżbieta Jurkiewicz, Piotr Stawiński, Agnieszka Gromadka, Piotr Zielenkiewicz, Urszula Demkow, Magdalena Dziembowska, Jacek Kuźnicki, Trevor P. Creamer, Rafał Płoski
Eur J Hum Genet. 2019 Jan; 27(1): 61–69. Published online 2018 Sep 25. doi: 10.1038/s41431-018-0254-8
PMCID:
PMC6303256
16.
Laura van Diepen, Falk F. R. Buettner, Dirk Hoffmann, Christina T. Thiesler, Oliver von Bohlen und Halbach, Viola von Bohlen und Halbach, Lars R. Jensen, Doris Steinemann, Simon Edvardson, Orly Elpeleg, Axel Schambach, Rita Gerardy-Schahn, Andreas W. Kuss
Eur J Hum Genet. 2018 Dec; 26(12): 1773–1783. Published online 2018 Aug 8. doi: 10.1038/s41431-018-0220-5
PMCID:
PMC6244410
17.
Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xin, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Deciphering Developmental Disorders Study, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford
Am J Hum Genet. 2018 Nov 1; 103(5): 666–678. Published online 2018 Oct 18. doi: 10.1016/j.ajhg.2018.09.006
PMCID:
PMC6216110
18.
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen M. Wigby, Nissan V. Baratang, Justine Rousseau, Anik St-Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie Jones, Alejandro D. Iglesias, Marilyn C. Jones, Diane Masser-Frye, Angela E. Scheuerle, Denise L. Perry, Ryan J. Taft, Françoise Le Deist, Miles Thompson, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2018 Oct 4; 103(4): 602–611. Published online 2018 Sep 27. doi: 10.1016/j.ajhg.2018.08.014
PMCID:
PMC6174287
19.
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D. Picker, Sharyn Lincoln, David A. Sweetser, Lauren C. Briere, Harini Chellamani, Members of the Undiagnosed Diseases Network, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight
J Neurogenet.
Published in final edited form as: J Neurogenet. 2017 Mar-Jun; 31(1-2): 30–36. Published online 2017 May 2. doi: 10.1080/01677063.2017.1315417
PMCID:
PMC6169784
20.
Jovana Kovačević, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
Brain. 2018 May; 141(5): 1350–1374. Published online 2018 Mar 12. doi: 10.1093/brain/awy046
PMCID:
PMC5917748

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