Хайлтын үр дүнгүүд - Nicolas Leboucq

  • 5-н 1 - 5 үр дүнгүүдийг харуулж байна
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  1. 1
    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

    Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability -н Claire Angebault, Majida Charif, Naïg Guegen, Camille Piro-Mégy, Bénédicte Mousson de Camaret, Vincent Procaccio, Pierre‐Olivier Guichet, Maxime Hebrard, Gaël Manès, Nicolas Leboucq, François Rivier, Christian Hamel, Guy Lenaers, Agathe Roubertie

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

    Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort -н Susana Quijano‐Roy, Jana Haberlová, Claudia Castiglioni, John Vissing, Francina Munell, François Rivier, Tanya Stojkovic, Edoardo Malfatti, M. Gómez García de la Banda, Giorgio Tasca, Laura Costa-Comellas, A. Bénézit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforêt, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Béroud, Jana Zídková, Nicolas Leboucq, Nicoline Løkken, Ángel Sánchez‐Montáñez, Ximena Ortega, Martin Kynčl, Corinne Métay, David Gómez‐Andrés, Robert Carlier

    Хэвлэсэн 2021
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    Artigo
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  3. 3
    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

    Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans -н Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Ubaldo Martinez‐Outschoorn, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, M. Kœnig, Robert W. Taylor

    Хэвлэсэн 2021
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    Artigo
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  4. 4
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease -н Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    Хэвлэсэн 2017
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    Artigo
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  5. 5
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia -н Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    Хэвлэсэн 2018
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    Artigo
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