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Items: 1 to 20 of 175

1.
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer
Front Mol Biosci. 2023; 10: 1250714. Published online 2023 Oct 17. doi: 10.3389/fmolb.2023.1250714
PMCID:
PMC10616856
2.
Agung Triono, Elisabeth Siti Herini, Gunadi
J Med Case Rep. 2024; 18: 215. Published online 2024 Apr 23. doi: 10.1186/s13256-024-04514-2
PMCID:
PMC11036636
3.
Elisa Borghi, Ornella Xynomilakis, Emerenziana Ottaviano, Camilla Ceccarani, Ilaria Viganò, Paola Tognini, Aglaia Vignoli
Sci Rep. 2024; 14: 7376. Published online 2024 Mar 28. doi: 10.1038/s41598-024-56989-0
PMCID:
PMC10978852
4.
Yaoyao Shangguan, Xingru Ding, Le Ma, Yi-Xin Cai, Shulei Xiang, Xiu-Feng Huang, Yunyan Shen, Hai-Guo Yu, Wenjie Zheng
J Immunol Res. 2024; 2024: 5722548. Published online 2024 Mar 6. doi: 10.1155/2024/5722548
PMCID:
PMC10937081
5.
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
6.
Ji Yoon Han, Yong Gon Cho, Dae Sun Jo, Joonhong Park
Int J Mol Sci. 2024 Jan; 25(1): 253. Published online 2023 Dec 23. doi: 10.3390/ijms25010253
PMCID:
PMC10779371
7.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811
PMCID:
PMC10690684
8.
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
9.
Brenda Carolina Nájera-Chávez, Lea Seeber, Klaus Goldhahn, Axel Panzer
Neuropediatrics. 2023 Dec; 54(6): 417–421. Published online 2023 Sep 18. doi: 10.1055/a-2133-5343
PMCID:
PMC10643020
10.
Stéphanie Cherqui
Med Sci (Paris) French.
Published in final edited form as: Med Sci (Paris). 2023 Mar; 39(3): 253–261. Publication en ligne 2023 mars 21. DOI : 10.1051/medsci/2023025
PMCID:
PMC10629270
11.
Heidy Baide‐Mairena, Arthur Coget, Nicolas Leboucq, Vincent Procaccio, Maud Blanluet, Pierre Meyer, Marie‐Claire Malinge, Marie‐Céline François‐Heude, Mathis Moreno, David Geneviève, Cecilia Marelli, Agathe Roubertie
Ann Clin Transl Neurol. 2023 Oct; 10(10): 1937–1943. Published online 2023 Jul 25. doi: 10.1002/acn3.51858
PMCID:
PMC10578886
12.
Swasti Keshri, Anil Kumar Goel, Seema Shah, Ankit Kumar Garg
Acta Biomed. 2021; 92(Suppl 1): e2021261. Published online 2021 Nov 4. doi: 10.23750/abm.v92iS1.11781
PMCID:
PMC10523044
13.
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
14.
Jennifer G. Andrews, Maureen Kelly Galindo, Joshua B. Hack, Joseph C. Watkins, Gabrielle A. Conecker, Michael F. Hammer, The SCN8A Research Consortium
J Registry Manag. 2023 Spring; 50(1): 4–10. Published online 2023 Mar 1.
PMCID:
PMC10414210
15.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
16.
Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C. Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M. Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M. Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J. Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Genomics England Research Consortium, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A. Paolucci, Jillian G. Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A. Sayer, Jan Halbritter
Am J Hum Genet. 2023 Jun 1; 110(6): 998–1007. Published online 2023 May 18. doi: 10.1016/j.ajhg.2023.04.010
PMCID:
PMC10257002
17.
Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney
Epilepsia Open. 2023 Jun; 8(2): 623–632. Published online 2023 Apr 24. doi: 10.1002/epi4.12747
PMCID:
PMC10235173
18.
Xin Zhang, Shiyan Qiu, Li Yang, Yufen Li, Liyun Xu, Na Xu, Changrui Mi, Menglin Li
Mol Genet Genomic Med. 2023 May; 11(5): e2146. Published online 2023 Feb 7. doi: 10.1002/mgg3.2146
PMCID:
PMC10178798
19.
Xiao-Hui Wu, Shuang-Zhu Lin, Zhen-Xian Liu, Yang-Fan Qi, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Lu-Lu Yang
Medicine (Baltimore) 2023 May 12; 102(19): e33744. Published online 2023 May 12. doi: 10.1097/MD.0000000000033744
PMCID:
PMC10174347
20.
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Genes (Basel) 2023 Apr; 14(4): 810. Published online 2023 Mar 28. doi: 10.3390/genes14040810
PMCID:
PMC10137517

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