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Items: 1 to 20 of 31

1.
Jaseph Soto-Perez, Marybeth Baumgartner, Rahul N. Kanadia
Front Neurosci. 2020; 14: 617513. Published online 2020 Dec 18. doi: 10.3389/fnins.2020.617513
PMCID:
PMC7775536
2.
O Reiner, U Albrecht, M Gordon, KA Chianese, C Wong, O Gal-Gerber, T Sapir, LD Siracusa, AM Buchberg, CT Caskey
J Neurosci. 1995 May 1; 15(5): 3730–3738. doi: 10.1523/JNEUROSCI.15-05-03730.1995
PMCID:
PMC6578245
3.
Gillian V. Blayney, Eoghan Laffan, Preethi A. Jacob, Caitlin D. Baptiste, Heinz Gabriel, Teresa N. Sparks, Yuval Yaron, Mary E. Norton, Karin Diderich, Yiming Wang, Karen Chong, David Chitayat, Neelam Saini, Shagun Aggarwal, Montse Pauta, Antoni Borrell, Kelly Gilmore, Natalie J. Chandler, Stephanie Allen, Neeta Vora, Abdul Noor, Caitriona Monaghan, Mark D. Kilby, Ronald J. Wapner, Lyn S. Chitty, Fionnuala Mone
Prenat Diagn.
Published in final edited form as: Prenat Diagn. 2024 Apr; 44(4): 422–431. Published online 2023 Dec 6. doi: 10.1002/pd.6466
PMCID:
PMC11044826
4.
Clara Gontijo Camelo, Mariana Cunha Artilheiro, Cristiane Araújo Martins Moreno, Suely Fazio Ferraciolli, André Macedo Serafim Silva, Tatiana Ribeiro Fernandes, Leandro Tavares Lucato, Antônio José Rocha, Umbertina Conti Reed, Edmar Zanoteli
J Neuromuscul Dis. 2023; 10(4): 483–492. Prepublished online 2023 May 9. Published online 2023 Jul 4. doi: 10.3233/JND-221638
PMCID:
PMC10357150
5.
Atul Gupta, Chaithanya Reddy, Lokesh Saini, Jaivinder Yadav, Rakesh Kumar, Jayne Houghton, Sian Ellard, Devi Dayal
Pediatr Endocrinol Diabetes Metab. 2021 Dec; 27(4): 287–290. Published online 2021 Dec 19. doi: 10.5114/pedm.2021.107719
PMCID:
PMC10226343
6.
Theresa Göbel, Lea Berninger, Andrea Schlump, Bernd Feige, Kimon Runge, Kathrin Nickel, Miriam A. Schiele, Ludger Tebartz van Elst, Alrun Hotz, Svenja Alter, Katharina Domschke, Andreas Tzschach, Dominique Endres
J Neural Transm (Vienna) 2022; 129(11): 1387–1391. Published online 2022 Oct 7. doi: 10.1007/s00702-022-02544-y
PMCID:
PMC9550762
7.
Kristina Sibbin, Patrick Yap, Denis Nyaga, Raoul Heller, Stephen Evans, Kate Strachan, Salam Alburaiky, Han M. (Alex) Nguyen, Sylvie Hermann‐Le Denmat, Austen R. D. Ganley, Justin M. O'Sullivan, Frank H. Bloomfield
Am J Med Genet A. 2022 Apr; 188(4): 1299–1306. Published online 2021 Dec 31. doi: 10.1002/ajmg.a.62631
PMCID:
PMC9302691
8.
Carolina Ortiz-Cordero, Claudia Bincoletto, Neha R. Dhoke, Sridhar Selvaraj, Alessandro Magli, Haowen Zhou, Do-Hyung Kim, Anne G. Bang, Rita C.R. Perlingeiro
Stem Cell Reports. 2021 Nov 9; 16(11): 2752–2767. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.009
PMCID:
PMC8581053
9.
N Aida, K Tamagawa, K Takada, A Yagishita, N Kobayashi, K Chikumaru, H Iwamoto
AJNR Am J Neuroradiol. 1996 Apr; 17(4): 605-13.
PMCID:
PMC8337276
10.
Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Genes (Basel) 2021 Jul; 12(7): 962. Published online 2021 Jun 24. doi: 10.3390/genes12070962
PMCID:
PMC8303193
11.
G. Talenti, C. Robson, M.S. Severino, C.A. Alves, D. Chitayat, H. Dahmoush, L. Smith, F. Muntoni, S.I. Blaser, F. D’Arco
AJNR Am J Neuroradiol. 2021 Jan; 42(1): 167–172. doi: 10.3174/ajnr.A6858
PMCID:
PMC7814787
12.
Rodrigo Cachay, Alvaro Schwalb, Takashi Watanabe, Doris Guzman, Thomas Jaenisch, Daniel Guillén-Pinto, Eduardo Gotuzzo
Am J Trop Med Hyg. 2020 Oct; 103(4): 1656–1659. Published online 2020 Jul 27. doi: 10.4269/ajtmh.20-0421
PMCID:
PMC7543855
13.
Shereen G. Ghosh, Lu Wang, Martin W. Breuss, Joshua D. Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J. Traynor, Amal Alhashem, Matloob Azam, Laila Selim, Laila Bastaki, Hanan I. Elbastawisy, Samia Temtamy, Maha S. Zaki, Joseph G. Gleeson
J Med Genet.
Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 274–282. Published online 2019 Oct 5. doi: 10.1136/jmedgenet-2019-106409
PMCID:
PMC7405652
14.
Sangmoon Lee, Dillon Y. Chen, Maha S. Zaki, Reza Maroofian, Henry Houlden, Nataliya Di Donato, Dalia Abdin, Heba Morsy, Ghayda M. Mirzaa, William B. Dobyns, Jennifer McEvoy-Venneri, Valentina Stanley, Kiely N. James, Grazia M.S. Mancini, Rachel Schot, Tugba Kalayci, Umut Altunoglu, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Yalda Jamshidi, M. Chiara Manzini, Mehran Beiraghi Toosi, Joseph G. Gleeson
Am J Hum Genet. 2019 Oct 3; 105(4): 844–853. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.08.013
PMCID:
PMC6817548
15.
Laura V Vandervore, Rachel Schot, Esmee Kasteleijn, Renske Oegema, Katrien Stouffs, Alexander Gheldof, Martyna M Grochowska, Marianne L T van der Sterre, Leontine M A van Unen, Martina Wilke, Peter Elfferich, Peter J van der Spek, Daphne Heijsman, Anna Grandone, Jeroen A A Demmers, Dick H W Dekkers, Johan A Slotman, Gert-Jan Kremers, Gerben J Schaaf, Roy G Masius, Anton J van Essen, Patrick Rump, Arie van Haeringen, Els Peeters, Umut Altunoglu, Tugba Kalayci, Raymond A Poot, William B Dobyns, Nadia Bahi-Buisson, Frans W Verheijen, Anna C Jansen, Grazia M S Mancini
Brain. 2019 Apr; 142(4): 867–884. Published online 2019 Mar 16. doi: 10.1093/brain/awz045
PMCID:
PMC6439326
16.
Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp
Orphanet J Rare Dis. 2019; 14: 38. Published online 2019 Feb 11. doi: 10.1186/s13023-019-1020-x
PMCID:
PMC6371496
17.
Nicholas Farris, Helena Wu, Sara Said-Delgado, Barrie Suskin, Susan Klugman
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002196. doi: 10.1101/mcs.a002196
PMCID:
PMC5983170
18.
Huaibiao Li, Torsten Kroll, Jürgen Moll, Lucien Frappart, Peter Herrlich, Heike Heuer, Aspasia Ploubidou
Stem Cell Reports. 2017 Oct 10; 9(4): 1071–1080. Published online 2017 Sep 21. doi: 10.1016/j.stemcr.2017.08.013
PMCID:
PMC5639290
19.
Seungshin Ha, Prem P. Tripathi, Anca B. Mihalas, Robert F. Hevner, David R. Beier
J Neurosci. 2017 Jan 25; 37(4): 960–971. doi: 10.1523/JNEUROSCI.1826-16.2016
PMCID:
PMC5296787
20.
Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken’ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura, Takaki Miyata, Thong Teck Tan, Bruno Reversade, Shinji Hirotsune
Sci Rep. 2017; 7: 39902. Published online 2017 Jan 12. doi: 10.1038/srep39902
PMCID:
PMC5228124

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