Hasil Pencarian - Ehsan G. Karimiani

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  1. 1
    Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum

    Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum oleh Eboni M. V. Bucknor, Errin Johnson, Stephanie Efthymiou, Javeria R. Alvi, Tipu Sultan, Henry Houlden, Reza Maroofian, Ehsan G. Karimiani, Mattéa J. Finelli, Peter L. Oliver

    Diterbitkan 2024-06-01
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  2. 2
    Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

    Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy oleh Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini

    Diterbitkan 2020-11-01
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  3. 3
    Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

    Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy oleh Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

    Diterbitkan 2024-08-01
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