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Items: 1 to 20 of 144

1.
Emma M. Perkins, Daumante Suminaite, Yvonne L. Clarkson, Sin Kwan Lee, Alastair R. Lyndon, Jeffrey D. Rothstein, David J.A. Wyllie, Kohichi Tanaka, Mandy Jackson
Hum Mol Genet. 2016 Oct 15; 25(20): 4448–4461. Published online 2016 Aug 15. doi: 10.1093/hmg/ddw274
PMCID:
PMC5409221
2.
Emma Perkins, Daumante Suminaite, Mandy Jackson
J Physiol. 2016 Aug 15; 594(16): 4661–4676. Published online 2016 Apr 24. doi: 10.1113/JP271195
PMCID:
PMC4983618
3.
Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M. Zameel Cader, Sarah Hughes, Richard J. E. Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C. Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J. L. Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H. Németh
PLoS Genet. 2012 Dec; 8(12): e1003074. Published online 2012 Dec 6. doi: 10.1371/journal.pgen.1003074
PMCID:
PMC3516553
4.
Shichao Zhao, Ruofei Lian, Liang Jin, Mengchun Li, Tianming Jia, Falin Xu, Kaixian Du, Lijun Wang, Qiliang Guo, Yan Dong
Epilepsia Open. 2024 Feb; 9(1): 250–257. Published online 2023 Dec 8. doi: 10.1002/epi4.12862
PMCID:
PMC10839330
5.
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
6.
Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa
Medicine (Baltimore) 2023 Nov 24; 102(47): e35600. Published online 2023 Nov 24. doi: 10.1097/MD.0000000000035600
PMCID:
PMC10681469
7.
Shuang He, Shuai Chen, Shu‐Jian Li, Jie‐Wen Zhang, Xin‐Liang Liang
Mol Genet Genomic Med. 2023 Jun; 11(6): e2177. Published online 2023 Mar 31. doi: 10.1002/mgg3.2177
PMCID:
PMC10265053
8.
Lidvana Spahiu, John A Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj
Version 2. F1000Res. 2022; 11: 388. Published online 2023 Mar 31. doi: 10.12688/f1000research.109628.2
PMCID:
PMC10196526
9.
Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj
J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034
PMCID:
PMC10032320
10.
Panfeng Wang, Pengsen Wu, Junwen Wang, Yiyan Zeng, Yi Jiang, Yingwei Wang, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang
Invest Ophthalmol Vis Sci. 2023 Mar; 64(3): 19. Published online 2023 Mar 9. doi: 10.1167/iovs.64.3.19
PMCID:
PMC10010443
11.
Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao, Minna Luo
BMC Med Genomics. 2023; 16: 4. Published online 2023 Jan 12. doi: 10.1186/s12920-023-01438-6
PMCID:
PMC9838056
12.
Miaohua Ruan, Hongwei Wang, Mianmian Zhu, Rongyue Sun, Jiamin Shi, Qiu Wang, Yuan Chen, Yihong Wang, Dan Wang
J Clin Lab Anal. 2022 Dec; 36(12): e24767. Published online 2022 Nov 10. doi: 10.1002/jcla.24767
PMCID:
PMC9757004
13.
Rie Saito, Yui Tada, Daisuke Oikawa, Yusuke Sato, Makiko Seto, Akira Satoh, Kodai Kume, Nozomi Ueki, Masahiro Nakashima, Shintaro Hayashi, Yasuko Toyoshima, Fuminori Tokunaga, Hideshi Kawakami, Akiyoshi Kakita
Acta Neuropathol Commun. 2022; 10: 177. Published online 2022 Dec 7. doi: 10.1186/s40478-022-01486-6
PMCID:
PMC9727856
14.
Sisi Wang, Xue Yang, Yuan Ai, Yiping Zhu
Klin Padiatr. 2022 Nov; 234(6): 388–390. Published online 2022 Nov 15. doi: 10.1055/a-1933-2583
PMCID:
PMC9666055
15.
Emily Petley, Alexander Yule, Shaun Alexander, Shalini Ojha, William P. Whitehouse
PLoS One. 2022; 17(3): e0264177. Published online 2022 Mar 15. doi: 10.1371/journal.pone.0264177
PMCID:
PMC9049793
16.
Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M. Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F. Lavin, Amnon Koren, Aengus Stewart, Stephen C. West
Proc Natl Acad Sci U S A. 2022 Jan 25; 119(4): e2114314119. Published online 2022 Jan 18. doi: 10.1073/pnas.2114314119
PMCID:
PMC8795503
17.
David Vaughan, Adrinda Affendi, Patrick Sheahan, Brian Sweeney
BMJ Case Rep. 2021; 14(12): e245484. Published online 2021 Dec 30. doi: 10.1136/bcr-2021-245484
PMCID:
PMC8719124
18.
Melissa A. Walker, Tally Lerman-Sagie, Kathryn Swoboda, Dorit Lev, Lubov Blumkin
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2019 Aug; 179(8): 1575–1579. Published online 2019 Jun 5. doi: 10.1002/ajmg.a.61196
PMCID:
PMC8282352
19.
Jiwan Shriram Kinkar, Patel Zeeshan Jameel, Banshi Lal Kumawat, Priyanka Kalbhor
BMJ Case Rep. 2021; 14(6): e241767. Published online 2021 Jun 30. doi: 10.1136/bcr-2021-241767
PMCID:
PMC8246282
20.
Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G. Temel, Mahmut Cerkez Ergoren
Genes (Basel) 2021 Jun; 12(6): 945. Published online 2021 Jun 21. doi: 10.3390/genes12060945
PMCID:
PMC8234327

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