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Items: 1 to 20 of 500

1.
Taraneh Esmailpour, Hamidreza Riazifar, Linan Liu, Sandra Donkervoort, Vincent H Huang, Shreshtha Madaan, Bassem M Shoucri, Anke Busch, Jie Wu, Alexander Towbin, Robert B Chadwick, Adolfo Sequeira, Marquis P Vawter, Guoli Sun, Jennifer J Johnston, Leslie G Biesecker, Riki Kawaguchi, Hui Sun, Virginia Kimonis, Taosheng Huang
J Med Genet.
Published in final edited form as: J Med Genet. 2014 Mar; 51(3): 185–196. Published online 2014 Jan 15. doi: 10.1136/jmedgenet-2013-101660
PMCID:
PMC4278941
2.
F F Ozkinay, C Ozkinay, H Yüksel, A Yenigun, G Sapmaz, O Aksu
J Med Genet. 1997 Jul; 34(7): 604–606. doi: 10.1136/jmg.34.7.604
PMCID:
PMC1051007
3.
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Heather M Chapman, David N Cooper, Tabib Dabir, Jeffrey N Dudley, Richard J Holt, Nicola K Ragge, Alejandro A Schäffer, Shurjo K Sen, Anne M Salvotinek, David R FitzPatrick, Thomas M Glaser, Fiona Stewart, Graeme CM Black, Leslie G Biesecker
J Med Genet.
Published in final edited form as: J Med Genet. 2019 Jul; 56(7): 444–452. Published online 2019 Mar 6. doi: 10.1136/jmedgenet-2018-105836
PMCID:
PMC7032957
4.
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S Alkuraya, Janet Toribio, Rafael Mena, Carlos E Prada, Holly Stessman, Raphael Bernier, Marieke Wermuth, Birgit Kauffmann, Bettina Blaumeiser, R Frank Kooy, Diana Baralle, Grazia M S Mancini, Simon J Conway, Fan Xia, Zhao Chen, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J Lyon
Hum Mol Genet. 2019 Sep 1; 28(17): 2900–2919. Published online 2019 May 1. doi: 10.1093/hmg/ddz111
PMCID:
PMC6736318
5.
Jillian P. Casey, Svein I. Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski, Aimee Dunne, Sean Ennis, Francesca Brett, Mary D. King, Thomas Arnesen, Sally Ann Lynch
Sci Rep. 2015; 5: 16022. Published online 2015 Nov 2. doi: 10.1038/srep16022
PMCID:
PMC4629191
6.
Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro Nishio, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony Moore, David Fitzpatrick, Johannes Lemke, Florence Fellmann, François-Guillaume Debray, Florence Dastot-Le-Moal, Marion Gerard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloes, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly Hay, Kim Jenny, Kathreen Johnston, Michael Lyons, John W Belmont, Leslie G Biesecker, Irina Giurgea, Graeme Black
Eur J Hum Genet. 2009 Oct; 17(10): 1325–1335. Published online 2009 Apr 15. doi: 10.1038/ejhg.2009.52
PMCID:
PMC2826145
7.
Tanya M Bardakjian, Adele S Schneider, David Ng, Jennifer J Johnston, Leslie G Biesecker
BMC Med Genet. 2009; 10: 137. Published online 2009 Dec 16. doi: 10.1186/1471-2350-10-137
PMCID:
PMC2806267
8.
Mark A Agius, Gabriela Klodowska-Duda, Maciej Maciejowski, Andrzej Potemkowski, Jing Li, Kaushik Patra, Jacob Wesley, Soraya Madani, Gerard Barron, Eliezer Katz, Armando Flor
Mult Scler. 2019 Feb; 25(2): 235–245. Published online 2017 Nov 16. doi: 10.1177/1352458517740641
PMCID:
PMC6360486
9.
Sean P. Heffron, Caron B. Rockman, Mark A. Adelman, Eugenia Gianos, Yu Guo, JinFeng Xu, Jeffrey S. Berger
Arterioscler Thromb Vasc Biol.
Published in final edited form as: Arterioscler Thromb Vasc Biol. 2017 Jun; 37(6): 1234–1240. Published online 2017 May 18. doi: 10.1161/ATVBAHA.116.308474
PMCID:
PMC5515295
10.
Arvind Gupta, Renuka Srinivasan, Datta G Pandian, K Ramesh Babu
Indian J Ophthalmol. 2007 Nov-Dec; 55(6): 462–463. doi: 10.4103/0301-4738.36485
PMCID:
PMC2635974
11.
Matteo Monticelli, Raffaele De Marco, Diego Garbossa
Childs Nerv Syst. 2021; 37(8): 2713–2718. Published online 2021 Jan 25. doi: 10.1007/s00381-020-05035-1
PMCID:
PMC8342332
12.
Caitlin M. Logan, Caitlin J. Bowen, A. Sue Menko
Sci Rep. 2017; 7: 16235. Published online 2017 Nov 24. doi: 10.1038/s41598-017-16456-5
PMCID:
PMC5701161
13.
Eli Matsell, Jens Peter Andersen, Robert S. Molday
Dis Model Mech. 2024 Jun 1; 17(6): dmm050546. Published online 2024 Apr 24. doi: 10.1242/dmm.050546
PMCID:
PMC11073571
14.
Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu
BMC Pediatr. 2024; 24: 309. Published online 2024 May 6. doi: 10.1186/s12887-024-04779-y
PMCID:
PMC11071329
15.
Jessica Duis, Austin Skinner, Robert Carson, Arnaud Gouelle, Melanie Annoussamy, Jill L. Silverman, Susan Apkon, Laurent Servais, James Carollo
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1711–1721. Published online 2023 Apr 5. doi: 10.1002/ajmg.a.63192
PMCID:
PMC11068498
16.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
17.
Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández-Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard H Roxburgh, RFC1 repeat expansion study group , Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo Lòpez de Munaìn, Fiore Manganelli, Marina Kennerson, Filippo Maria Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferran Prados, Tarek Yousry, Vikram Khurana, Sheng-Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette Hartmann, Nazli Basak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M Reilly, Henry Houlden, Andrea Cortese
Brain. 2024 May; 147(5): 1887–1898. Published online 2024 Jan 9. doi: 10.1093/brain/awad436
PMCID:
PMC11068103
18.
Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
Front Endocrinol (Lausanne) 2024; 15: 1352552. Published online 2024 Apr 18. doi: 10.3389/fendo.2024.1352552
PMCID:
PMC11063372
19.
Zhuo Ren, Ling Yue, Hua-ying Hu, Xiao-lin Hou, Wen-qi Chen, Ya Tan, Zhe Dong, Jing Zhang
BMC Med Genomics. 2024; 17: 116. Published online 2024 Apr 29. doi: 10.1186/s12920-024-01889-5
PMCID:
PMC11059674
20.
Dejan B. Budimirovic, Dragana D. Protic, Carol M. Delahunty, Howard F. Andrews, Tse-Hwei Choo, Qing Xu, Elizabeth Berry-Kravis, Walter E. Kaufmann
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Apr; 188(4): 1029–1039. Published online 2021 Dec 10. doi: 10.1002/ajmg.a.62601
PMCID:
PMC11057226

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