检索结果 - Plavi Mittal
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Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases 由 Wei Liu, Sander Pajusalu, Nicole J. Lake, Geyu Zhou, Nilah M. Ioannidis, Plavi Mittal, Nicholas E. Johnson, Conrad C. Weihl, Bradley A. Williams, Douglas E. Albrecht, Laura Rufibach, Monkol Lek
出版 2019Artigo -
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Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy 由 Rachael A. Potter, Danielle A. Griffin, Patricia Sondergaard, R.W. Johnson, Eric R. Pozsgai, Kristin N. Heller, Ellyn L. Peterson, Kimmo Lehtimäki, Hillarie Plessner Windish, Plavi Mittal, Douglas E. Albrecht, Jerry R. Mendell, Louise R. Rodino‐Klapac
出版 2017Artigo -
3
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients 由 Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John Alexander, S. Hussain Askree, Zachary Whitt, Lora Jh Bean, Christin Collins, Satish V. Khadilkar, Pradnya Gaitonde, Rashna Dastur, Matthew Wicklund, Tahseen Mozaffar, Matthew Harms, Laura Rufibach, Plavi Mittal, Madhuri Hegde
出版 2018Artigo -
4
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials 由 Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, M. James, Anna Mayhew, Fiona E. Smith, U. Moore, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Plavi Mittal, Michelle Eagle, Marni Jacobs, Tim Hodgson, Dorothy Wallace, Louise Ward, Mark D. Smith, Roberto Stramare, Alessandro Rampado, Noriko Sato, Takeshi Tamaru, Bruce Harwick, Susana Rico Gala, Suna Turk, Eva Coppenrath, Glenn Foster, David Bendahan, Yann Le Fur, Stanley T. Fricke, Hansel J. Otero, Sheryl Foster, Anthony Peduto, A. Sawyer, H. Hilsden, Hanns Lochmüller, Ulrike Grieben, Simone Spuler, Carolina Tesi Rocha, John Day, Kristi Jones, Diana Bharucha‐Goebel, Emmanuelle Salort‐Campana, Matthew Harms, Alan Pestronk, Sabine Krause, Olivia Schreiber‐Katz, Maggie C. Walter, Carmen Paradas, Jean‐Yves Hogrel, Tanya Stojkovic, Shin’ichi Takeda, Madoka Mori‐Yoshimura, Elena Bravver, Susan Sparks, Luca Bello, Claudio Semplicini, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub
出版 2018Artigo
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Disease
Medicine
Biology
Gene
Genetics
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Bioinformatics
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Cohort
Dysferlin
Environmental health
Epidemiology
Exome
Exome sequencing
Gene delivery
Genetic enhancement
Internal medicine
Limb-girdle muscular dystrophy
Magnetic resonance imaging
Muscular dystrophy
Mutation
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Radiology