Torthaí cuardaigh - Louise Goujon

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  1. 1
    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease de réir Marisa W. Friederich, Abdallah F. Elias, Alice Küster, Lucia Laugwitz, Austin Larson, Aaron P. Landry, Logan Ellwood‐Digel, David M. Mirsky, David Dimmock, Jaclyn Haven, Hua Jiang, Kenneth N. Maclean, Katie Styren, Jonathan Schoof, Louise Goujon, T. Lefrançois, Maike Friederich, Curtis R. Coughlin, Ruma Banerjee, Tobias B. Haack, Johan L.K. Van Hove

    Foilsithe / Cruthaithe 2020
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  2. 2
    Genetic landscape of pediatric acute liver failure of indeterminate origin

    Genetic landscape of pediatric acute liver failure of indeterminate origin de réir Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Barić, Ulrich Baumann, Neslihan Ekşi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Antal Dezsöfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F. Garbade, Harald Gaspar, Louise Goujon, Nedim Hadžić, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, André Hoerning, Roderick H.J. Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka‐Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırşaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W. Laaß, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A. Mayr, Patrick McKiernan, Patricia McClean, Valérie A. McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia L. Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Наталя Семенова, Christiane Sokollik, Ekkehard Sturm, Robert W. Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B. Wortmann, Ekaterina Zakharova, Georg F. Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch

    Foilsithe / Cruthaithe 2023
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  3. 3
    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption de réir Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Foilsithe / Cruthaithe 2025
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