학술논문
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'학술논문'
에서 검색결과 749건 | 목록
1~20
Academic Journal
Lorenzo Menicucci; Moussa Mane; Agathe Roubertie; Odile Boespflug-Tanguy; Lena Damaj; Aline Delignieres; Laurine Perrin; Diana Rodriguez; Imen Dorboz; Michel Koenig; Lydie Burglen; Nelly Durand; Catherine Sarret
European Journal of Paediatric Neurology. 58:50-56
Academic Journal
Alexandre Belot; Odile Boespflug-Tanguy; Guilaine Boursier; Marie Hully; Bénédicte Neven; Florence Renaldo; Héloïse Reumaux; Sébastien Viel; Marie-Louise Frémond; Isabelle Melki; Florence Aeschlimann; Xavier Ayrignac; Didier Bessis; Fleur Cohen; Cécile Frachette; Sophie Georgin-Lavialle; Alice Hadchouel; Marie Inglese-Roux; Eric Jeziorski; Karine Joseph; Isabelle Koné-Paut; Estibaliz Lazaro; Jean-Christophe Lega; Nadia Nathan; Pascal Pillet; Laura Polivka; Christophe Richez; Anne-Sophie Romain; Florence Uetwiller; Elise Vivar; Anne Welfringer
La Revue de Médecine Interne. 46:320-340
Academic Journal
Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; d'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick; El-Daher, Marie-Thérèse; Lepelley, Alice
Lancet Neurol
Zhu, G, Didry-Barca, B, Seabra, L, Rice, G I, Uggenti, C, Touimy, M, Rodero, M P, Trapero, R H, Bondet, V, Duffy, D, Gautier, P, Livingstone, K, Sutherland, F J H, Lebon, P, Parisot, M, Bole-Feysot, C, Masson, C, Cagnard, N, Nitschké, P, Anderson, G, Assmann, B, Barth, M,Boespflug -Tanguy , O, D'Arco, F, Dorboz, I, Giese, T, Hacohen, Y, Hancarova, M, Husson, M, Lepine, A, Lim, M, Mancardi, M M, Melki, I, Neubauer, D, Sa, M, Sedlacek, Z, Seitz, A, Rottman, M S, Sanquer, S, Straussberg, R, Vlčková, M, Villéga, F, Wagner, M, Zerem, A, Marsh, J A, Frémond, M-L, Kaliakatsos, M, Crow, Y J, El-Daher, M-T & Lepelley, A 2025, 'Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency : a case series', The Lancet. Neurology, vol. 24, no. 3, pp. 218-229. https://doi.org/10.1016/S1474-4422(24)00526-X
The Lancet Neurology
Zhu, G, Didry-Barca, B, Seabra, L, Rice, G I, Uggenti, C, Touimy, M, Rodero, M P, Trapero, R H, Bondet, V, Duffy, D, Gautier, P, Livingstone, K, Sutherland, F J H, Lebon, P, Parisot, M, Bole-Feysot, C, Masson, C, Cagnard, N, Nitschké, P, Anderson, G, Assmann, B, Barth, M,
The Lancet Neurology
Academic Journal
Yemsratch Akalu; Justin Taft; Thomas Berger; Kevin Rostásy; Hormos S. Dafsari; Helena Schönrade; Müşerref Kasap Cüceoğlu; Seza Özen; Albert Faye; Isabelle Melki; Imen Dobroz; Odile Boespflug-Tanguy; Ayça Kiykim; Sezgin Sahin; Eda Tahir Turanli; Ümmüşen Kaya Akca; Jan A.M. van Laar; Philomine A. van Pelt; Iris H.I.M. Hollink; Pallavi Pimpale Chavan; Raju Khubchandani; Ivona Aksentijevich; Dusan Bogunovic
Journal of Human Immunity, Vol 2, Iss 2 (2026)
Academic Journal
Valentina De Giorgis; Kailash P. Bhatia; Odile Boespflug‐Tanguy; Domitille Gras; Adela Della Marina; Archana Desurkar; Manuel Toledo; Ian Miller; Michael Rotstein; Susanne A. Schneider; Daniel C. Tarquinio; Yvonne Weber; Melanie Brandabur; Jill Mayhew; Tony Koutsoukos; Darryl C. De Vivo
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Academic Journal
Bertola, Nicole ; Blondiaux, Eléonore ; Harion, Madeleine ; Dorboz, Imen ; Passemard, Sandrine ; Mercier, Sandra ; Conrad, Solène ; Cogné, Benjamin ; Boyer, Julie ; Uyttebroeck, Sophie ; Van Schil, Kristof ; Wuyts, Wim ; Rendtorff, Nanna Dahl ; Bertelsen, Mette ; Mey, Kristianna ; Blanc, Pierre ; Champ, Jerome ; Boespflug-Tanguy, Odile ; Cantagrel, Vincent ; Burglen, Lydie ; Coolen, Marion
In The American Journal of Human Genetics 5 February 2026 113(2):342-361
Academic Journal
Derome, Marion; Denard, Jérôme; Marinello, Martina; Levade, Thierry; Boespflug-Tanguy, Odile; Buj-Bello, Ana
médecine/sciences. 40:52-55
Academic Journal
Edmar Zanoteli; Giovanni Baranello; Odile Boespflug-Tanguy; John W. Day; Nicolas Deconinck; Andrea Klein; Riccardo Masson; Maria Mazurkiewicz-Bełdzińska; Eugenio Mercuri; Kristy Rose; Laurent Servais; Dmitry Vlodavets; COMP Last name; Hui Xiong; Muna El-Khairi; Marianne Gerber; Ksenija Gorni; Heidemarie Kletzl; Laura Palfreeman; Angela Dodman; Basil T. Darras; on behalf of the FIREFISH Study Group
Arquivos de Neuro-Psiquiatria. 82:S53-S176
Academic Journal
Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug‐Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
J Inherit Metab Dis
Journal of inherited metabolic disease 48(5), e70072 (2025). doi:10.1002/jimd.70072
Journal of inherited metabolic disease 48(5), e70072 (2025). doi:10.1002/jimd.70072
Academic Journal
Cwerman-Thibault, Hélène; Malko-Baverel, Vassilissa; Le Guilloux, Gwendoline; Ratcliffe, Edward; Mouri, Djmila; Torres-Cuevas, Isabel; Millán, Ivan; Saubaméa, Bruno; Mignon, Virginie; Boespflug-Tanguy, Odile; Gressens, Pierre; Corral-Debrinski, Marisol
Mol Ther
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Cwerman-Thibault, Hélène Malko-Baverel, Vassilissa Le Guilloux, Gwendoline Ratcliffe, Edward Mouri, Djmila Torres-Cuevas, Isabel Millán, Ivan Saubaméa, Bruno Mignon, VirginieBoespflug -Tanguy , Odile Gressens, Pierre Corral-Debrinski, Marisol 2024 Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior Molecular Therapy-Methods & Clinical Development
RODERIC. Repositorio Institucional de la Universitat de València
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Molecular Therapy
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r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Cwerman-Thibault, Hélène Malko-Baverel, Vassilissa Le Guilloux, Gwendoline Ratcliffe, Edward Mouri, Djmila Torres-Cuevas, Isabel Millán, Ivan Saubaméa, Bruno Mignon, Virginie
RODERIC. Repositorio Institucional de la Universitat de València
Universitat de València
Molecular Therapy
Academic Journal
Silvestre Cuinat; Paul Rollier; Katheryn Grand; Pedro A. Sanchez-Lara; Michelle Allen-Sharpley; Thierry Levade; Marie T. Vanier; Laurence Lion Francois; Nicole Chemaly; Capucine de Lattre; Camille Moreau; Adrien Paquot; Terence Beghyn; Servane de Masfrand; Stéphane Bézieau; Sandra Mercier; Odile Boespflug-Tanguy
Neurol Genet
Academic Journal
Eugenio Mercuri; Juan J Vilchez; Odile Boespflug-Tanguy; Craig M Zaidman; Jean K Mah; Nathalie Goemans; Wolfgang Müller-Felber; Erik H Niks; Ulrike Schara-Schmidt; Enrico Bertini; Giacomo P Comi; Katherine D Mathews; Laurent Servais; Krista Vandenborne; Jessika Johannsen; Sonia Messina; Stefan Spinty; Laura McAdam; Kathryn Selby; Barry Byrne; Chamindra G Laverty; Kevin Carroll; Giulia Zardi; Sara Cazzaniga; Nicoletta Coceani; Paolo Bettica; Craig M McDonald; Gyula Acsadi; Giovanni Baranello; Astrid Blaschek; John Brandsema; Claudia Brogna; Claudio Bruno; Anne Connolly; Imelda de Groot; Liesbeth De Waele; Erika Finanger; Richard Finkel; Teresa Gidaro; Michaela Guglieri; Amy Harper; Mercedes Lopez Lobato; Marcos Madruga Garrido; Francesca Magri; Georgios Manousakis; Riccardo Masson; Migvis Monduy; Nuria Muelas Gomez; Francina Munell; Andres Nascimento; Yoram Nevo; Yann Pereon; Han Phan; Valeria Sansone; Mariacristina Scoto; Dragana Vucinic; Tracey Willis
LANCET NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Academic Journal
Anna Gerasimenko; Cyril Mignot; Olivier Naggara; Florence Coulet; Samar Ekram; Solveig Heide; Clarisse Sorato; Maxime Mazowiecki; Laurence Perrin; Chrystelle Colas; Veronica Cusin; Frédéric Caux; Antoine Dardenne; Salima El Chehadeh; Alain Verloes; Hélène Maurey; Alexandra Afenjar; Florence Petit; Stéphane Barete; Odile Boespflug‐Tanguy; Emmanuelle Bourrat; Yline Capri; Viorica Ciorna; Wallid Deb; Diane Doummar; Alexandre Perrier; Alexis Guédon; Emmanuel Houdart; Bertrand Isidor; Marie‐Line Jacquemont; Camille Buffet; Sandra Mercier; Sandrine Passemard; Audrey Riquet; Lyse Ruaud; Elise Schaefer; Delphine Heron; Annouk Bisdorff; Patrick R. Benusiglio
Clinical Genetics. 106:90-94
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Academic Journal
Malbos, Marlène; Wakeling, Emma; Gautier, Thierry; Boespflug‐tanguy, Odile; Busby, Louise; Taylor‐miller, Tashunka; Dudoignon, Benjamin; Bokov, Plamen; Govin, Jérôme; Grisval, Margot; Rega, Adélaïde; Mourot de Rougemont, Marie‐gabrielle; Aubriot‐lorton, Marie‐hélène; Darmency, Véronique; Bensignor, Candace; Houzel, Anne; Huet, Frédéric; Denommé‐pichon, Anne‐sophie; Delanne, Julian; Tran Mau‐them, Frédéric; Bruel, Ange‐line; Safraou, Hana; Nambot, Sophie; Garde, Aurore; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Faivre, Laurence; Thauvin‐robinet, Christel
Clinical Genetics. 105:555-560
Academic Journal
Nanetti, Lorenzo; Kearney, Mary; Boesch, Sylvia; Stovickova, Lucie; Ortigoza-Escobar, Juan Darío; Macaya, Alfons; Gomez-Andres, David; Roze, Emmanuel; Molnar, Maria Judit; Wolf, Nicole I.; Darling, Alejandra; Vasco, Gessica; Bertini, Enrico; Indelicato, Elisabetta; Neubauer, David; Haack, Tobias B.; Sagi, Judit C.; Danti, Federica R.; Sival, Deborah; Zanni, Ginevra; Kolk, Anneli; Boespflug-Tanguy, Odile; Schols, Ludger; van de Warrenburg, Bart; Vidailhet, Marie; Willemsen, Michèl A.; Buizer, Annemieke I.; Orzes, Enrico; Ripp, Sophie; Reinhard, Carola; Moroni, Isabella; Mariotti, Caterina; ERN-RND Working Group for Management of Transition
Neurological Sciences. 45(3):1007-1016
Academic Journal
Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; Attié-Bitach, Tania; Comier-Daire, Valerie; Rozet, Jean-Michel; Frishberg, Yaacov; Llanas, Brigitte; Broyer, Michel; Mohsin, Nabil; Macher, Marie-Alice; Philip, Nicole; Baudouin, Véronique; Brackman, Damian; Loirat, Chantal; Charbit, Marina; Dehennault, Maud; Guyot, Claude; Bataille, Pierre; Elting, Mariet; Deschenes, Georges; Gropman, Andrea; Guest, Geneviève; Gagnadoux, Marie-France; Nicoud, Philippe; Cochat, Pierre; Ranchin, Bruno; Bensman, Albert; Guerrot, Anne-Marie; Knebelmann, Bertrand; Bilge, Ilmay; Bruno, Danièle; Burtey, Stéphane; Rouvière, Caroline Rousset; Caudwell, Valérie; Morin, Denis; Dollfus, Hélène; Maisin, Anne; Hamel, Christian; Bieth, Eric; Gie, Sophie; Goodship, Judith; Roussey, Gwenaelle; La Selve, Hermine; Nivet, Hubert; Bessenay, Lucie; Caillez, Mathilde; Palcoux, Jean Bernard; Benoît, Stéphane; Dubot, Philippe; Fila, Marc; Giuliano, Fabienne; Iftene, Daouya; Kessler, Michele; Kwon, Theresa; Lahoche, Anine; Laurent, Audrey; Leclerc, Anne-Laure; Milford, David; Neuhaus, Thomas; Odent, Sylvie; Eckart, Philippe; Chauveau, Dominique; Niaudet, Patrick; Repetto, Horacio; Taque, Sophie; Bruel, Alexandra; Noel-Botte, Alexandra; Launay, Emma Allain; Allard, Lisa; Anlicheau, Dany; Adra, Anne-Laure; Garnier, Arnaud; Nagra, Arvind; Baatard, Remy; Bacchetta, Justine; Sadikoglu, Banu; Barnerias, Christine; Barthelemy, Anne; Basel, Lina; Bassilios, Nader; Ben Maiz, Hedi; Ben Moussa, Fatma; Benmati, Faïza; Berthaud, Romain; Bertholet, Aurélia; Blanchier, Dominique; Boffa, Jean Jacques; Bouchireb, Karim; Bouhabel, Ihab; Boukerroucha, Zakaria; Bourdat-Michel, Guylhène; Boute, Odile; Brochard, Karine; Caumes, Roseline; Elalaoui, Siham Chafai; Chamontin, Bernard; Chastang, Marie Caroline; Pietrement, Christine; Richer, Christine; Legendre, Christophe; Dahan, Karin; Dalla-Vale, Fabienne; Thibaudin, Damien; Dauvergne, Maxime; Davourie, Salandre; Debeukelaer, Martin; Delbet, Jean Daniel; Deltas, Constantinos; Graber, Denis; Devillars, Nadège; Diouf, Boucar; Fenzy, Martine Doco; André, Jean-Luc; Joly, Dominique; Fryer, Alan; Albano, Laetitia; Cassuto, Elisabeth; Pincon, Aline; Medeira, Ana; Chaussenot, Annabelle; Mensire-Marinier, Anne; Bouissou, Francois; Decramer, Stéphane; Bottani, Armand; Hummel, Aurélie; Karras, Alexandre; Katz, Avi; Azema, Christine; Janbon, Bénédicte; Roussel, Bernard; Bonniol, Claude; Mariat, Christiophe; Champion, Gérard; Chantreuil, Deborah; Chassaing, Nicolas; Mousson, Christiane; Baudeau, Christine; Cuntz, Delphine Hafdar; Mignot, Cyril; Dehoux, Laurene; Lacombe, Didier; Hannedouche, Thierry; Mérieau, Elodie; Charlin, Emmanuelle; Gauthier, Eric; Plasse, Florent; Faguer, Stanislas; Lebas, Fanny; Demurger, Florence; Emma, Francesco; Cartault, François; Dumont, Geneviève; Godefroid, Nathalie; Guigonis, Vincent; Hillaire, Sophie; Groothoff, Jaap; Dudley, Jan; Jourde-Chiche, Noémie; El Karoui, Khalil; Krid, Saoussen; Coudert, Krier; Bencheick, Larbi; Yver, Laurent; Lavocat, Marie-Pierre; de Sagazan, Le Monies; Leroy, Valerie; Thibaudin, Lise; Ingulli, Liz; Gwanmesia, Lorraine; Burglen, Lydie; Saïd-Menthon, Marie-Hélène; Carrera, Marta; Nizon, Mathilde; Melander, Catherine; Foulard, Michel; Blayo, Monique; Prinseau, Jacques; Jay, Nadine; Brun, Nathalie; Camille, Nicolas; Nobili, François; Devuyst, Olivier; Ben Brahim, Ouafa; Parvex, Paloma; Sabourin, Laurence Perrin; Blanc, Philippe; Vanhille, Philippe; Galichon, Pierre; Pierrepont, Sophie; Planquois, Vincent; Poussard, Gwenaelle; Noble, Claire Pouteil; Allal, Radia; Bernard, Raphaelle; Mounet, Raynaud; Cahen, Rémi; Touraine, Renaud; Rigothier, Claire; Ryckewaert, Amélie; Sacquepee, Mathieu; El Chehadeh, Salima; Samaille, Charlotte; Haq, Shuman; Simckes, Ari; Lanoiselée, Stéphanie; Tellier, Stephanie; Subra, Jean-François; Cloarec, Sylvie; Tenenbam, Julie; Lamy, Thomas; Garraud, Valérie Drouin; Valette, Huguette; Meyssonnier, Vanina; Vargas-Poussou, Rosa; Snajer, Yves; Durault, Sandrine; Plaisier, Emmanuelle; Berard, Etienne; Fakhouri, Fadi; Louillet, Ferielle; Finielz, Paul; Fischbach, Michel; Foliguet, Bernard; Francois-Pradier, Hélène; Garaix, Florentine; Gerard, Marion; Rizzoni, Gianfranco; Gilbert, Brigitte; Glotz, Denis; Dubrasquet, Astrid Godron; Grünfeld, Jean-Pierre; Bollee, Guillaume; Hall, Michelle; Hansson, Sverker; Haye, Damien; Taffin, Hélène; Hildebrandt, Friedhelm; Hourmand, Maryvonne; Kayserili, Hümya; Tack, Ivan; Jacquemont, Marie Line; Fabre-Teste, Jennifer; Kashtan, Cliff; van Hoeck, Kkoen; Klein, Alexandre; Knefati, Yannick; Knoers, Nine; Konrad, Martin; Lachaux, Alain; Landru, Isabelle; Landthaler, Gilbert; Lang, Philippe; Le Pogamp, Patrick; Legris, Tristan; Didailler, Catherine; Lobbedez, Thierry; de Parscau, Loïc; Pinson, Lucile; Maheut, Hervé; Duval-Arnould, Marc; Rio, Marlène; Gubler, Marie-Claire; Merville, Pierre; Mestrallet, Guillaume; Meunier, Maite; Moreau, Karine; Harambat, Jérôme; Morgan, Graeme; Mourad, Georges; Stuber, Niksic; Boespflug-Tanguy, Odile; Dunand, Olivier; Niel, Olivier; Ouali, Nacera; Malvezzi, Paolo; Jaoude, Pauline Abou; Pelletier, Solenne; Peltier, Julie; Petersen, M.B.; Michel, Philippe; Rémy, Philippe; Philit, Jean-Baptiste; Pichault, Valérie; Billette de Villemeur, Thierry; Boudailliez, Bernard; Leheup, Bruno; Dossier, Claire; Djeddi, Djamal-Dine; Berland, Yves; Hurault de Ligny, Bruno; Rigden, Susan; Robino, Christophe; Rossi, Annick; Sarnacki, Sabine; Saidani, Messaoud; Sartorius, Albane Brodin; Schäfer, Elise; Laszlo, Sztriha; Thouret, Marie-Christine; Thuillier-Lecouf, Angélique; Trachtman, Howard; Trivin, Claire; Tsimaratos, Michel; van Damme-Lombaerts, Rita; Willems, Marjolaine; Youssef, Michel; Zaloszyc, Ariane; Zawodnik, Alexis; Ziliotis, Marie-Julia
INSERM–Necker Hospital NPH collaborative group 2023, 'The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies', Kidney International, vol. 104, no. 2, pp. 378-387. https://doi.org/10.1016/j.kint.2023.05.007
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Perrin, Aurélien; Métay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Solé, Guilhem; Péréon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; d'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Françoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Maréchal, Lucie; Johari, Mridul; van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisèle; Cossée, Mireille
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