학술논문
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'학술논문'
에서 검색결과 138건 | 목록
1~20
Academic Journal
Barrière, Sarah; Manel, Véronique; Barnerias, Christine; Wahbi, Karim; Audic, Frédérique; Cances, Claude; Chouchane, Mondher; Dabaj, Ivana; Davion, Jean-Baptiste; Desguerre, Isabelle; Durigneux, Julien; Espil-Taris, Caroline; Gousse, Gaëlle; Gitiaux, Cyril; Lambert, Clémentine; Laroche, Cécile; Laugel, Vincent; Le Moing, Anne-Gaelle; Pereon, Yann; Quijano-Roy, Susana; Ropars, Juliette; Sarrazin, Elisabeth; Serrand, Benjamin; Thibaud, Marie; Trommsdorff, Valérie; Urtizberea, Jon Andoni; Vanhulle, Catherine; Walther-Louvier, Ulrike; Isapof, Arnaud; Sarret, Catherine
Archives de Pédiatrie. 32:107-113
Academic Journal
M’Zahem, Abderrahim; Goldenberg, Alice; Bolocan, Anamaria; Gerdelat, Angélique; Heinzmann, Anna; Grapperon, Aude-Marie; Riou, Audrey; Carlander, Bertrand; Chabrol, Brigitte; Simon-Bouy, Brigitte; Moulard, Bruno; Taris, Caroline Espil; Gire, Catherine; vanHulle, Catherine; Yardin, Catherine; Thauvin-Robinet, Christel; Coubes, Christine; De Barace, Claire; Desnuelles, Claude; Mignard, Claude; Adams, David; Doummar, Diane; Baudou, Eloïse; Roze, Emmanuel; Boutin, Emmanuelle; Demurger, Florence; Audic, Frédérique; Payet, Frédérique; Nicolas, Gaël; Sole, Guilhem; Taieb, Guillaume; Chaabouni, Habiba; Ranjatoelina, Hanitra; Ion, Ioana; Pouget, Jean; Pedespan, Jean-Michel; N’Guyen, Karine; van Maldergem, Lionel; Guyant-Maréchal, Lucie; Jacquemont, Marie-Line; Monin, Marie-Lorraine; Hardy, Maxime; Cintas, Pascal; Sabouraud, Pascal; Aubourg, Patrick; Calvas, Patrick; Collignon, Patrick; Casenave, Philippe; Debs, Rabab; Thummler, Susanne; Fenu, Sylvia; Stojkovic, Tanja; Rouaud, Tiphaine; Gioiosa, Valeria; Trommsdorff, Valérie; Gonzales, Victoria; Ferrer, Xavier; Matoussi, Zied; Benkirane, Mehdi ; Marelli, Cecilia ; Choumert, Ariane ; Goizet, Cyril ; Patat, Olivier ; Ewenczyk, Claire ; Anheim, Mathieu ; Mégarbané, André ; Larrieu, Lise ; Charlin, Cyril ; Ory-Magne, Fabienne ; Chaussenot, Annabelle ; Fradin, Mélanie ; Guissart, Claire ; Pointaux, Morgane ; Cossée, Mireille ; Vincent, Marie-Claire ; Bergougnoux, Anne ; Hersent, Clément ; Bareil, Corinne ; Roubertie, Agathe ; Fluchère, Frédérique ; Renaud, Mathilde ; Kremer, Laurent ; Tranchant, Christine ; Attarian, Shahram ; Odent, Sylvie ; Laugel, Vincent ; Walther-Louvier, Ulrike ; Desnous, Beatrice ; Bieth, Eric ; Husson, Isabelle ; Azulay, Jean Phillipe ; Rivier, François ; Doray, Bérénice ; Durr, Alexandra ; Aouinti, Safa ; Molinari, Nicolas ; Koenig, Michel
In Genetics in Medicine December 2025 27(12)
Academic Journal
Bresack, Brandon ; Kohl, Laura Renée ; Afenjar, Alexandra ; Audic, Frédérique ; Burglen, Lydie ; Charles, Perrine ; Dundar, Nihal Olgac ; van de Kamp, Jiddeke ; Machol, Keren ; Magoulas, Pilar ; Goze-Martineau, Odile ; Motazacker, Mahdi ; Philippi, Heike ; Reyes, Alejandra ; Tutakhel, Omar A.Z. ; Bertoli-Avella, Aida ; Sticht, Heinrich ; Abou Jamra, Rami ; Oppermann, Henry
In The American Journal of Human Genetics 4 December 2025 112(12):2961-2972
Academic Journal
Attarian, Shahram; Beloribi-Djefaflia, Sadia; Bernard, Rafaelle; Nguyen, Karine; Cances, Claude; Gavazza, Carole; Echaniz-Laguna, Andoni; Espil, Caroline; Evangelista, Teresinha; Feasson, Léonard; Audic, Frédérique; Zagorda, Berenice; Milhe De Bovis, Virginie; Stojkovic, Tanya; Sole, Guilhem; Salort-Campana, Emmanuelle; Sacconi, Sabrina
Journal of Neurology. :1-26
Academic Journal
Isabelle Desguerre; Rémi Barrois; Frédérique Audic; Christine Barnerias; Brigitte Chabrol; Jean Baptiste Davion; Julien Durigneux; Caroline Espil-Taris; Marta Gomez-Garcia de la Banda; Marine Guichard; Arnaud Isapof; Marie Christine Nougues; Vincent Laugel; Laure Le Goff; Sandra Mercier; Anne Pervillé; Christian Richelme; Marie Thibaud; Catherine Sarret; Cyril Schweitzer; Hervé Testard; Valérie Trommsdorff; Catherine Vanhulle; Ulrike Walther-Louvier; Cécilia Altuzarra; Mondher Chouchane; Juliette Ropars; Susana Quijano-Roy; Claude Cances
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Academic Journal
Barrois, Rémi Pierre Marie; Barnerias, Christine; Deladrière, Elodie; Leloup-Germa, V.; Tervil, Brian; Audic, Frédérique; Boulay, Christophe; Cances, Claude; Cintas, Pascal; Davion, Jean Baptiste; Espil-Taris, Caroline; Manel, Véronique; Pereon, Yann; Piarroux, Julie; Quijano Roy, Susana; Vuillerot, Carole; Walther-Louvier, Ulrike; Desguerre, Isabelle; Gitiaux, Cyril
Neuromuscular Disorders. 33:309-314
Academic Journal
Audic, Frédérique ; Dubois, Sonia M. ; Durigneux, Julien ; Barnerias, Christine ; Isapof, Arnaud ; Nougues, Marie-Christine ; Davion, Jean-Baptiste ; Richelme, Christian ; Vuillerot, Carole ; Legoff, Laure ; Sabouraud, Pascal ; Cances, Claude ; Laugel, Vincent ; Ropars, Juliette ; Espil-Taris, Caroline ; Trommsdorff, Valérie ; Pervillé, Anne ; Garcia-de-la-Banda, Marta Gomez ; Testard, Hervé ; Chouchane, Mondher ; Walther-Louvier, Ulrike ; Schweizer, Cyril ; Halbert, Cécile ; Badri, Myriam ; Quijano-Roy, Susana ; Chabrol, Brigitte ; Desguerre, Isabelle
In Archives de pédiatrie February 2024 31(2):117-123
Academic Journal
Fernandez-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Moris, German; Gallardo, Eduard; Olive, Montse; De Fuenmayor-fernandez De La Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C.; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G.; Dohrn, Maike F.; Dembele, Mohamed; Fer, Frederic; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Dominguez-Gonzalez, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya
Academic Journal
Ropars, Juliette; Cances, Claude; Garcia-Uzquiano, Rocio; de la Banda, Marta Gomez-Garcia; Barnerias, Christine; Audic, Frederique; Durigneux, Julien; Halbert, Cecile; Nkam, Lionelle; Laugel, Vincent; Espil, Caroline; Walther-Louvier, Ulrike; Davion, Jean-Baptiste; Isapof, Arnaud; Le Goff, Laure; Desguerre, Isabelle; Quijano-Roy, Susana; Grimaldi, Lamiae
Academic Journal
Boulay, Christophe; Delmont, Emilien; Audic, Frederique; Halbert, Cecile; Pesenti, Sebastien; Chabrol, Brigitte; Desnous, Beatrice; Attarian, Shahram
Academic Journal
Muscle & Nerve. 64:445-453
Academic Journal
Victor Morel; Frédérique Audic; Charlotte Tardy; Annie Verschueren; Shahram Attarian; Karine Nguyen; Emmanuelle Salort-Campana; Martin Krahn; Brigitte Chabrol; Svetlana Gorokhova
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Gerin, Lorene; Ropars, Juliette; Garcia-Uzquiano, Rocio; De la Banda, Marta Gomez-Garcia; Saugier-Veber, Pascale; Desguerre, Isabelle; Salort-Campana, Emmanuelle; Espil, Caroline; Barnerias, Christine; Laugel, Vincent; Cances, Claude; Audic, Frederique; Cintas, Pascal; Le Goff, Laure; Mallaret, Martial; Nougues, Marie-Christine; Drunat, Severine; Tard, Celine; Grimaldi, Lamiae; Quijano-Roy, Susana; R SMA Study Grp FILNEMUS
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
Baudou, Eloïse ; Nemmi, Federico ; Biotteau, Maëlle ; Maziero, Stéphanie ; Assaiante, Christine ; Cignetti, Fabien ; Vaugoyeau, Marianne ; Audic, Frederique ; Peran, Patrice ; Chaix, Yves
In European Journal of Paediatric Neurology September 2020 28:89-100
Academic Journal
Mortreux, Jeremie; Bacquet, Juliette; Boyer, A.; Alazard, E.; Bellance, R.; Giguet-Valard, A.; Cerino, Mathieu; Krahn, Martin; Audic, Frédérique; Chabrol, Brigitte; Laugel, V.; Desvignes, Jean-Pierre; Béroud, Christophe; Nguyen, Karine; Verschueren, A.; Lévy, Nicolas; Attarian, Shahram; Delague, Valérie; Missirian, Chantal; Bonello-Palot, Nathalie
Journal of Human Genetics. 65:313-323
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)
Academic Journal
Krahn, Martin; Biancalana, Valérie; Cerino, Mathieu; Perrin, Aurélien; Michel-Calemard, Laurence; Nectoux, Juliette; Leturcq, France; Bouchet-Séraphin, Céline; Acquaviva-Bourdain, Cécile; Campana-Salort, Emmanuelle; Molon, Annamaria; Urtizberea, Jon Andoni; Audic, Frédérique; Chabrol, Brigitte; Pouget, Jean; Froissart, Roseline; Melki, Judith; Rendu, John; Petit, François; Metay, Corinne; Séta, Nathalie; Sternberg, Damien; Faure, Julien; Cossée, Mireille
European Journal of Human Genetics. 27:349-352
Academic Journal
Cignetti, Fabien ; Vaugoyeau, Marianne ; Fontan, Aurelie ; Jover, Marianne ; Livet, Marie-Odile ; Hugonenq, Catherine ; Audic, Frédérique ; Chabrol, Brigitte ; Assaiante, Christine
In Research in Developmental Disabilities May 2018 76:25-34
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