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Items: 1 to 20 of 178

1.
Kathleen A. Drexler, Asha N. Talati, Kelly L. Gilmore, Rachel V. Veazey, Bradford C. Powell, Karen E. Weck, Erica E. Davis, Neeta L. Vora
Genet Med.
Published in final edited form as: Genet Med. 2023 Oct; 25(10): 100915. Published online 2023 Jun 13. doi: 10.1016/j.gim.2023.100915
PMCID:
PMC10580430
2.
Nicola Specchio, Marina Trivisano, Matteo Lenge, Alessandro Ferretti, Davide Mei, Elena Parrini, Antonio Napolitano, Camilla Rossi-Espagnet, Giacomo Talenti, Daniela Longo, Jacopo Proietti, Francesca Ragona, Elena Freri, Roberta Solazzi, Tiziana Granata, Francesca Darra, Bernardo Dalla Bernardina, Federico Vigevano, Renzo Guerrini
Cereb Cortex. 2023 Sep 1; 33(17): 9709–9717. Published online 2023 Jul 10. doi: 10.1093/cercor/bhad235
PMCID:
PMC10472491
3.
Zoe Crane-Smith, Sandra C P De Castro, Evanthia Nikolopoulou, Paul Wolujewicz, Damian Smedley, Yunping Lei, Emma Mather, Chloe Santos, Mark Hopkinson, Andrew A Pitsillides, Genomics England Research Consortium, Richard H Finnell, M Elisabeth Ross, Andrew J Copp, Nicholas D E Greene
Hum Mol Genet. 2023 Sep 1; 32(17): 2681–2692. Published online 2023 Jun 26. doi: 10.1093/hmg/ddad094
PMCID:
PMC10460492
4.
Amy Mann, Arameh Aghababaie, Jennifer Kalitsi, Daniel Martins, Yannis Paloyelis, Ritika R. Kapoor
Mol Autism. 2023; 14: 26. Published online 2023 Jul 25. doi: 10.1186/s13229-023-00559-0
PMCID:
PMC10369759
5.
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
6.
张 广宇, 赵 云霞, 赵 会玲, 唐 国皓, 王 鹏亮, 朱 登纳
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069
PMCID:
PMC10247204
7.
Sabrina Schlienger, Patricia T. Yam, Nursen Balekoglu, Hugo Ducuing, Jean-Francois Michaud, Shirin Makihara, Daniel K. Kramer, Baoyu Chen, Alfonso Fasano, Alfredo Berardelli, Fadi F. Hamdan, Guy A. Rouleau, Myriam Srour, Frederic Charron
Sci Adv. 2023 May; 9(19): eadd5501. Published online 2023 May 12. doi: 10.1126/sciadv.add5501
PMCID:
PMC10181192
8.
Lucas Hoffmann, Roland Coras, Katja Kobow, Javier A. López-Rivera, Dennis Lal, Costin Leu, Imad Najm, Peter Nürnberg, Jochen Herms, Patrick N. Harter, Christian G. Bien, Thilo Kalbhenn, Markus Müller, Tom Pieper, Till Hartlieb, Manfred Kudernatsch, Hajo Hamer, Sebastian Brandner, Karl Rössler, Ingmar Blümcke, Samir Jabari
Acta Neuropathol. 2023; 145(6): 815–827. Published online 2023 Mar 27. doi: 10.1007/s00401-023-02561-5
PMCID:
PMC10175344
9.
Yanming Ren, Zongyao Huang, Lingling Zhou, Peng Xiao, Junwei Song, Ping He, Chuanxing Xie, Ran Zhou, Menghan Li, Xiangqun Dong, Qing Mao, Chao You, Jianguo Xu, Yanhui Liu, Zhigang Lan, Tiejun Zhang, Qi Gan, Yuan Yang, Tengyun Chen, Bowen Huang, Xiang Yang, Anqi Xiao, Yun Ou, Zhengzheng Su, Lu Chen, Yan Zhang, Yan Ju, Yuekang Zhang, Yuan Wang
Nat Commun. 2023; 14: 1028. Published online 2023 Feb 23. doi: 10.1038/s41467-023-36707-6
PMCID:
PMC9950149
10.
Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei, Fahad A. Bashiri
Neurosciences (Riyadh) 2022 Oct; 27(4): 244–250. doi: 10.17712/nsj.2022.4.20220001
PMCID:
PMC9749570
11.
Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro
Ital J Pediatr. 2022; 48: 170. Published online 2022 Sep 8. doi: 10.1186/s13052-022-01365-9
PMCID:
PMC9461219
12.
Wenhui Li, Amy L. Schneider, Ingrid E. Scheffer
Epilepsia. 2021 Sep; 62(9): 2205–2217. Published online 2021 Aug 2. doi: 10.1111/epi.17015
PMCID:
PMC9291974
13.
Wei Wang, Wei Wang, Ting-Yan He, Li-Ping Zou, Wen-Dao Li, Zhong-Xun Yu, Ming-Sheng Ma, Jun Yang, Hong-Mei Song
World J Pediatr. 2022; 18(7): 490–497. Published online 2022 May 12. doi: 10.1007/s12519-022-00545-1
PMCID:
PMC9205831
14.
Felice Frey, Jawdat Sandakly, Mirna Ghannam, Caren Doueiry, Fredrik Hugosson, Johannes Berlandi, Joy N. Ismail, Tenzin Gayden, Martin Hasselblatt, Nada Jabado, Margret Shirinian
eNeuro. 2022 Mar-Apr; 9(2): ENEURO.0418-21.2022. Prepublished online 2022 Apr 8. Published online 2022 Apr 22. doi: 10.1523/ENEURO.0418-21.2022
PMCID:
PMC9045479
15.
Nadine Bernhardt, Fatima Memic, Anna Velica, Michelle A. Tran, Jennifer Vieillard, Shumaila Sayyab, Taha Chersa, Leif Andersson, Patrick J. Whelan, Henrik Boije, Klas Kullander
eNeuro. 2022 Mar-Apr; 9(2): ENEURO.0518-21.2022. Prepublished online 2022 Feb 24. Published online 2022 Mar 14. doi: 10.1523/ENEURO.0518-21.2022
PMCID:
PMC8925726
16.
Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir
Epilepsia Open. 2022 Mar; 7(1): 170–180. Published online 2021 Nov 18. doi: 10.1002/epi4.12553
PMCID:
PMC8886097
17.
Karen E. Boschen, Eric W. Fish, Scott E. Parnell
Reprod Toxicol.
Published in final edited form as: Reprod Toxicol. 2021 Oct; 105: 136–147. Published online 2021 Sep 4. doi: 10.1016/j.reprotox.2021.09.002
PMCID:
PMC8529623
18.
B A Georgy, R D Snow, B G Brogdon, W Wertelecki
AJNR Am J Neuroradiol. 1998 Feb; 19(2): 281-3.
PMCID:
PMC8338194
19.
Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kohei Matsubara, Hiromi Hirata, Kenjiro Kosaki, Toshiyuki Takano‐Shimizu
Am J Med Genet A. 2021 Jul; 185(7): 2084–2093. Published online 2021 May 11. doi: 10.1002/ajmg.a.62226
PMCID:
PMC8251549
20.
Christopher J. Yuskaitis, Maura R.Z. Ruzhnikov, Katherine B. Howell, I. Elaine Allen, Kush Kapur, Dennis J. Dlugos, Ingrid E. Scheffer, Annapurna Poduri, Elliott H. Sherr
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2018 Oct; 87: 48–56. Published online 2018 May 7. doi: 10.1016/j.pediatrneurol.2018.04.012
PMCID:
PMC8188823

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