Showing 1 - 8 results of 8 for search 'Svetlana Gorokhova', query time: 0.08s
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center by Victor Morel, Frédérique Audic, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Shahram Attarian, Karine Nguyen, Karine Nguyen, Emmanuelle Salort-Campana, Emmanuelle Salort-Campana, Martin Krahn, Martin Krahn, Brigitte Chabrol, Brigitte Chabrol, Svetlana Gorokhova, Svetlana Gorokhova
Published 2023-12-01
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49 by Mario Abaji, Svetlana Gorokhova, Nathalie Da Silva, Tiffany Busa, Maude Grelet, Chantal Missirian, Sabine Sigaudy, Nicole Philip, France Leturcq, Nicolas Lévy, Martin Krahn, Marc Bartoli
Published 2022-07-01
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An AI-Powered Blood Test to Detect Cancer Using NanoDSF by Philipp O. Tsvetkov, Rémi Eyraud, Stéphane Ayache, Anton A. Bougaev, Soazig Malesinski, Hamed Benazha, Svetlana Gorokhova, Christophe Buffat, Caroline Dehais, Marc Sanson, Franck Bielle, Dominique Figarella Branger, Olivier Chinot, Emeline Tabouret, François Devred
Published 2021-03-01
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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population by Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A. Bevilacqua
Published 2022-06-01
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care by Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossée
Published 2022-07-01
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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Published 2023-01-01
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy by Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Published 2021-12-01
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