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Items: 1 to 20 of 79

1.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
2.
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
3.
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
4.
Miriam Kessi, Baiyu Chen, Li-Dan Shan, Ying Wang, Lifen Yang, Fei Yin, Fang He, Jing Peng, Guoli Wang
BMC Med Genomics. 2023; 16: 46. Published online 2023 Mar 7. doi: 10.1186/s12920-023-01474-2
PMCID:
PMC9990233
5.
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Brain. 2022 Jul; 145(7): 2301–2312. Published online 2022 Apr 4. doi: 10.1093/brain/awac116
PMCID:
PMC9337806
6.
Srinivasarao Repudi, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan
EMBO Mol Med. 2021 Dec 7; 13(12): e14599. Published online 2021 Nov 7. doi: 10.15252/emmm.202114599
PMCID:
PMC8649866
7.
Ben Pode-Shakked, Ortal Barel, Amihood Singer, Miriam Regev, Hana Poran, Aviva Eliyahu, Yael Finezilber, Meirav Segev, Michal Berkenstadt, Hagith Yonath, Haike Reznik-Wolf, Yael Gazit, Odelia Chorin, Gali Heimer, Lidia V. Gabis, Michal Tzadok, Andreea Nissenkorn, Omer Bar-Yosef, Efrat Zohar-Dayan, Bruria Ben-Zeev, Nofar Mor, Nitzan Kol, Omri Nayshool, Noam Shimshoviz, Ifat Bar-Joseph, Dina Marek-Yagel, Elisheva Javasky, Reviva Einy, Moran Gal, Julia Grinshpun-Cohen, Mordechai Shohat, Dan Dominissini, Annick Raas-Rothschild, Gideon Rechavi, Elon Pras, Lior Greenbaum
Sci Rep. 2021; 11: 19099. Published online 2021 Sep 27. doi: 10.1038/s41598-021-98646-w
PMCID:
PMC8476634
8.
Lauren C. Briere, Melissa A. Walker, Frances A. High, Cynthia Cooper, Cassandra A. Rogers, Christine J. Callahan, Ryosuke Ishimura, Yoshinobu Ichimura, Paul A. Caruso, Nutan Sharma, Elly Brokamp, Mary E. Koziura, Shekeeb S. Mohammad, Russell C. Dale, Lisa G. Riley, Undiagnosed Diseases Network, John A. Phillips, Masaaki Komatsu, David A. Sweetser
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a005827. doi: 10.1101/mcs.a005827
PMCID:
PMC8208045
9.
Ehud Banne, Baraa Abudiab, Sara Abu-Swai, Srinivasa Rao Repudi, Daniel J. Steinberg, Diala Shatleh, Sarah Alshammery, Leszek Lisowski, Wendy Gold, Peter L. Carlen, Rami I. Aqeilan
Cells. 2021 Apr; 10(4): 824. Published online 2021 Apr 7. doi: 10.3390/cells10040824
PMCID:
PMC8067556
10.
Jeffrey Ng, Eleanor Sams, Dustin Baldridge, Milinn Kremitzki, Daniel J. Wegner, Tina Lindsay, Robert Fulton, F. Sessions Cole, Tychele N. Turner
Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005348. doi: 10.1101/mcs.a005348
PMCID:
PMC7304358
11.
Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E. Nunes, Dean P. Sarco, Richard A. Kaplan, Dennis J. Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R. Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D. McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S. Møller, Elizabeth Palmer, John A. Lawson, Colleen A. Campbell, Charuta N. Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig, For the Epi4K Consortium, For the EuroEPINOMICS-RES NLES Working Group
Neurology. 2017 Jul 25; 89(4): 385–394. doi: 10.1212/WNL.0000000000004152
PMCID:
PMC5574673
12.
Alan O'Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Eur J Hum Genet. 2017 Jun; 25(6): 775–778. Published online 2017 Apr 5. doi: 10.1038/ejhg.2017.39
PMCID:
PMC5477367
13.
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E. Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V. Harlalka, Michael A. Simpson, Philip Rich, Fatema Al-Salmi, Michael A. Patton, Barry A. Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G. Hanna, Piero Pucci, Henry Houlden, James R. Lupski, Andrew H. Crosby, Emma L. Baple
Brain. 2017 Apr; 140(4): 940–952. Published online 2017 Feb 28. doi: 10.1093/brain/awx014
PMCID:
PMC5382943
14.
Wenjuan Chen, Anel Tankovic, Pieter B. Burger, Hirofumi Kusumoto, Stephen F. Traynelis, Hongjie Yuan
Mol Pharmacol. 2017 Apr; 91(4): 317–330. Published online 2017 Apr. doi: 10.1124/mol.116.106781
PMCID:
PMC5363715
15.
Lindsay M. Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua, Walter E. Kaufmann
Orphanet J Rare Dis. 2015; 10: 105. Published online 2015 Aug 27. doi: 10.1186/s13023-015-0323-9
PMCID:
PMC4549933
16.
Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A.F. Al-Hazzaa, Fowzan S. Alkuraya
Am J Hum Genet. 2013 Mar 7; 92(3): 387–391. doi: 10.1016/j.ajhg.2013.01.008
PMCID:
PMC3591839
17.
Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J. Kornberg, Manuel Castro-Gago, María-Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen
Nat Genet.
Published in final edited form as: Nat Genet. 2012 Jun; 44(6): 704–708. Published online 2012 Apr 29. doi: 10.1038/ng.2254
PMCID:
PMC3366034
18.
Jiamei Zhang, Hongxing Liu, Mingmei Wang, Yiran Xu, Dengna Zhu, Fan Yang
Mol Genet Genomic Med. 2024 Jan; 12(1): e2333. Published online 2023 Dec 11. doi: 10.1002/mgg3.2333
PMCID:
PMC10767685
19.
Ga Hye Kim, Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
Front Pediatr. 2023; 11: 1165638. Published online 2023 May 25. doi: 10.3389/fped.2023.1165638
PMCID:
PMC10248406
20.
Jieling Li, Jie Cao
Front Neurol. 2022; 13: 889167. Published online 2022 Sep 7. doi: 10.3389/fneur.2022.889167
PMCID:
PMC9491239

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