학술논문
'학술논문'
에서 검색결과 25건 | 목록
1~10
Academic Journal
Crystal M. Proud; Eugenio Mercuri; Richard S. Finkel; Janbernd Kirschner; Darryl C. De Vivo; Francesco Muntoni; Kayoko Saito; Eduardo F. Tizzano; Isabelle Desguerre; Susana Quijano‐Roy; Kamal Benguerba; Dheeraj Raju; Eric Faulkner; Laurent Servais
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2155-2160 (2023)
Academic Journal
Nastasia Cardone; Valentina Taglietti; Serena Baratto; Kaouthar Kefi; Baptiste Periou; Ciryl Gitiaux; Christine Barnerias; Peggy Lafuste; France Leturcq Pharm; Juliette Nectoux Pharm; Chiara Panicucci; Isabelle Desguerre; Claudio Bruno; François-Jerome Authier; Chiara Fiorillo; Frederic Relaix; Edoardo Malfatti
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Academic Journal
Lamisse Mansour-Hendili; Cyril Gitiaux; Madeleine Harion; Céline Latouche; Bénédicte Heron; Tanya Stojkovic; Mélanie Rama; Thomas Smol; Anne Sophie Jourdain; Karine Mention; Yann Nadjar; Manuel Schiff; Julie Lemale; Jamal Ghoumid; Frédéric Gottrand; Cécile Talbotec; Agnès Rötig; Benoît Funalot; Isabelle Desguerre
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Romain Nicolle; Nami Altin; Karine Siquier-Pernet; Sherlina Salignac; Pierre Blanc; Arnold Munnich; Christine Bole-Feysot; Valérie Malan; Barthélémy Caron; Patrick Nitschké; Isabelle Desguerre; Nathalie Boddaert; Marlène Rio; Antonio Rausell; Vincent Cantagrel
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Academic Journal
Ivana Dabaj; Robert Y. Carlier; Klaus Dieterich; Isabelle Desguerre; Julien Faure; Norma B. Romero; Wenting Trang; Susana Quijano-Roy; Dominique P. Germain
Frontiers in Genetics, Vol 13 (2023)
Academic Journal
Sophie Boursange; Marco Araneda; Caroline Stalens; Isabelle Desguerre; Christine Barnerias; Marie-Christine Nougues; Arnaud Isapof; Susana Quijano-Roy; Nadia Blu Genestine; Laetitia Ouillade; Maripaz Martinez Jalilie; Claudia Castiglioni; Odile Boespflug-Tanguy; Marcela Gargiulo; The SMAPAR Study Group
Frontiers in Pediatrics, Vol 10 (2022)
Academic Journal
Lucie Isoline Pisella; Sara Fernandes; Guilhem Solé; Tanya Stojkovic; Céline Tard; Jean-Baptiste Chanson; Françoise Bouhour; Emmanuelle Salort-Campana; Guillemette Beaudonnet; Louise Debergé; Fanny Duval; Aude-Marie Grapperon; Marion Masingue; Aleksandra Nadaj-Pakleza; Yann Péréon; Frédérique Audic; Anthony Behin; Diane Friedman; Armelle Magot; Jean-Baptiste Noury; Sarah Souvannanorath; Karim Wahbi; Jean-Christophe Antoine; Kévin Bigaut; Jean-Philippe Camdessanché; Pascal Cintas; Rabab Debs; Caroline Espil-Taris; Laurent Kremer; Thierry Kuntzer; Pascal Laforêt; Vincent Laugel; Martial Mallaret; Maud Michaud; Sylvain Nollet; Juliette Svahn; Savine Vicart; Rocio Nur Villar-Quiles; Isabelle Desguerre; David Adams; Sandrine Segovia-Kueny; Géraldine Merret; Elhadi Hammouda; Annamaria Molon; Shahram Attarian
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Sukhleen Kour; Deepa S. Rajan; Tyler R. Fortuna; Eric N. Anderson; Caroline Ward; Youngha Lee; Sangmoon Lee; Yong Beom Shin; Jong-Hee Chae; Murim Choi; Karine Siquier; Vincent Cantagrel; Jeanne Amiel; Elliot S. Stolerman; Sarah S. Barnett; Margot A. Cousin; Diana Castro; Kimberly McDonald; Brian Kirmse; Andrea H. Nemeth; Dhivyaa Rajasundaram; A. Micheil Innes; Danielle Lynch; Patrick Frosk; Abigail Collins; Melissa Gibbons; Michele Yang; Isabelle Desguerre; Nathalie Boddaert; Cyril Gitiaux; Siri Lynne Rydning; Kaja K. Selmer; Roser Urreizti; Alberto Garcia-Oguiza; Andrés Nascimento Osorio; Edgard Verdura; Aurora Pujol; Hannah R. McCurry; John E. Landers; Sameer Agnihotri; E. Corina Andriescu; Shade B. Moody; Chanika Phornphutkul; Maria J. Guillen Sacoto; Amber Begtrup; Henry Houlden; Janbernd Kirschner; David Schorling; Sabine Rudnik-Schöneborn; Tim M. Strom; Steffen Leiz; Kali Juliette; Randal Richardson; Ying Yang; Yuehua Zhang; Minghui Wang; Jia Wang; Xiaodong Wang; Konrad Platzer; Sandra Donkervoort; Carsten G. Bönnemann; Matias Wagner; Mahmoud Y. Issa; Hasnaa M. Elbendary; Valentina Stanley; Reza Maroofian; Joseph G. Gleeson; Maha S. Zaki; Jan Senderek; Udai Bhan Pandey
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Academic Journal
Gwenaël Cornec; Sylvain Brochard; Gaelle Drewnowski; Isabelle Desguerre; Philippe Toullet; Audrey Fontaine; Yann Le Lay; Julia Boivin; Eric Bérard; Maria Bodoria; Vincent Gautheron; Javier De la Cruz
Frontiers in Neurology, Vol 12 (2022)
Academic Journal
Frédérique Audic; Marta Gomez Garcia de la Banda; Delphine Bernoux; Paola Ramirez-Garcia; Julien Durigneux; Christine Barnerias; Arnaud Isapof; Jean-Marie Cuisset; Claude Cances; Christian Richelme; Carole Vuillerot; Vincent Laugel; Juliette Ropars; Cécilia Altuzarra; Caroline Espil-Taris; Ulrike Walther-Louvier; Pascal Sabouraud; Mondher Chouchane; Catherine Vanhulle; Valérie Trommsdorff; Anne Pervillé; Hervé Testard; Emmanuelle Lagrue; Catherine Sarret; Anne-Laude Avice; Pierre Beze-Beyrie; Vanessa Pauly; Susana Quijano-Roy; Brigitte Chabrol; Isabelle Desguerre
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
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[AR] Isabelle Desguerre
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