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Items: 1 to 20 of 86

1.
Chengyan Li, You Wang, Cizheng Zeng, Binglong Huang, Yinhui Chen, Chupeng Xue, Ling Liu, Shiwen Rong, Yongwen Lin
Sci Rep. 2024; 14: 27590. Published online 2024 Nov 11. doi: 10.1038/s41598-024-79431-x
PMCID:
PMC11555314
2.
Elysabeth D. Otte, Randall J. Roper
Front Neurosci. 2024; 18: 1462893. Published online 2024 Sep 6. doi: 10.3389/fnins.2024.1462893
PMCID:
PMC11413744
3.
Angélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, Ange-Line Bruel, Christophe Philippe, Julien Maraval, Caroline Racine, Nawale Hadouiri, Laetitia Lambert, Emmanuelle Schmitt, Guillaume Banneau, Armand Hocquel, Christel Thauvin-Robinet, Laurence Faivre, Quentin Thomas
J Neurol. 2024; 271(9): 6343–6348. Published online 2024 Jul 13. doi: 10.1007/s00415-024-12565-0
PMCID:
PMC11377504
4.
贺 海兰, 林 雪芹, 王 晓乐, 彭 盼, 肖 慧, 尹 飞, 彭 镜
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Aug 15; 26(8): 861–864. Chinese. doi: 10.7499/j.issn.1008-8830.2404013
PMCID:
PMC11334538
5.
Fiona Whitaker, Alvaro Serrano
Case Rep Genet. 2024; 2024: 2926555. Published online 2024 Jul 30. doi: 10.1155/2024/2926555
PMCID:
PMC11303064
6.
袁 晶晶, 王 玉君, 黎 露莎, 谢 艳红, 莫 朝晖, 金 萍
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Apr 28; 49(4): 649–654. Chinese. doi: 10.11817/j.issn.1672-7347.2024.230359
PMCID:
PMC11255198
7.
Christy Hung, Emre Fertan, Frederick J Livesey, David Klenerman, Rickie Patani
Brain. 2024 Jul; 147(7): 2325–2333. Published online 2024 Mar 25. doi: 10.1093/brain/awae092
PMCID:
PMC11224613
8.
Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene
Clin Epigenetics. 2024; 16: 76. Published online 2024 Jun 6. doi: 10.1186/s13148-024-01686-y
PMCID:
PMC11157947
9.
I. Infantino, F. Tocchioni, M. Ghionzoli, R. Coletta, F. Morini, A. Morabito
Front Pediatr. 2024; 12: 1372269. Published online 2024 Feb 16. doi: 10.3389/fped.2024.1372269
PMCID:
PMC10908171
10.
Íris Oliveira, Andreia Fernandes, Mafalda Pereira, Márcia Rodrigues, Noémia Silva, Carla Mendonça
Cureus. 2024 Jan; 16(1): e51451. Published online 2024 Jan 1. doi: 10.7759/cureus.51451
PMCID:
PMC10829433
11.
Cheng Huang, Haiyan Luo, Baitao Zeng, Chuanxin Feng, Jia Chen, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Front Genet. 2023; 14: 1290949. Published online 2023 Dec 20. doi: 10.3389/fgene.2023.1290949
PMCID:
PMC10765505
12.
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
13.
Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino
Genes (Basel) 2023 Oct; 14(10): 1843. Published online 2023 Sep 22. doi: 10.3390/genes14101843
PMCID:
PMC10606760
14.
Evangeline C. Kurtz-Nelson, Hannah M. Rea, Aiva C. Petriceks, Caitlin M. Hudac, Tianyun Wang, Rachel K. Earl, Raphael A. Bernier, Evan E. Eichler, Emily Neuhaus
Autism Res.
Published in final edited form as: Autism Res. 2023 Aug; 16(8): 1488–1500. Published online 2023 Jul 27. doi: 10.1002/aur.2995
PMCID:
PMC10530559
15.
Rose Guo, Alyssa Rippert, Edward B Cook, Cesar Augusto P Alves, Lynne M Bird, Kosuke Izumi
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Oct; 191(10): 2602–2609. Published online 2023 May 9. doi: 10.1002/ajmg.a.63230
PMCID:
PMC10527330
16.
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192
PMCID:
PMC10496081
17.
Erin A. Boese, Mallory R. Tollefson, Michael J. Schnieders, Benjamin W. Darbro, Wallace L.M. Alward, John H. Fingert
Curr Eye Res.
Published in final edited form as: Curr Eye Res. 2020 Jan; 45(1): 91–96. Published online 2019 Aug 14. doi: 10.1080/02713683.2019.1649704
PMCID:
PMC10413309
18.
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
19.
Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella Gurrieri
Genes (Basel) 2023 Jul; 14(7): 1353. Published online 2023 Jun 27. doi: 10.3390/genes14071353
PMCID:
PMC10379032
20.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B.A. deVries, Cynthia J Curry
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1900–1910. Published online 2023 May 14. doi: 10.1002/ajmg.a.63226
PMCID:
PMC10330231

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