학술논문
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'학술논문'
에서 검색결과 95건 | 목록
1~20
Academic Journal
Boudet-Berquier, Julie; Demattei, Christophe; Guldner, Laurence; Gallay, Anne; Manouvrier, Sylvie; Botton, Jérémie; Philippat, Claire; Delva, Fleur; Bloch, Juliette; Semaille, Caroline; Odent, Sylvie; Perthus, Isabelle; Randrianaivo, Hanitra; Babajko, Sylvie; Barjat, Tiphaine; Beneteau, Claire; Brennetot, Naima; Garne, Ester; Haddad, Georges; Hocine, Mounia; Lacroix, Isabelle; Leuraud, Klervi; Mench, Michel; Morris, Joan; Patrier, Sophie; Sartelet, Arnaud; Verloes, Alain; Bonaldi, Christophe; Le Barbier, Mélina; Gagnière, Bertrand; Pépin, Philippe; Ollivier, Ronan; Bitoun, Monique; King, Lisa; Guajardo-Villar, Andrea; Gomes, Eugenia; Desenclos, Jean-Claude; Regnault, Nolwenn; Benachi, Alexandra
European Journal of Epidemiology. 39:753-771
Academic Journal
Vera Bril; Artur Drużdż; Julian Grosskreutz; Ali A Habib; Renato Mantegazza; Sabrina Sacconi; Kimiaki Utsugisawa; John Vissing; Tuan Vu; Marion Boehnlein; Ali Bozorg; Maryam Gayfieva; Bernhard Greve; Franz Woltering; Henry J Kaminski; Angela Genge; Rami Massie; Maxime Berube; Lubna Daniyal; Shabber Mannan; Eduardo Ng; Ritesh Rohan Raghu Raman; Evelyn Sarpong; Monica Alcantara; Annie Dionne; Zaeem Siddiqi; Derrick Blackmore; Faraz Hussain; Genevieve Matte; Stephan Botez; Michaela Tyblova; Michala Jakubikova; Jana Junkerova; Nanna Witting; Sonja Holm-Yildiz; Mads Stemmerik; Henning Andersen; Izabella Obál; Guilhem Solé; Stéphane Mathis; Marie-Hélène Violleau; Christine Tranchant; Sihame Messai; Jean-Baptiste Chanson; Aleksandra Nadaj-Pakleza; Arnaud Verloes; Leila Zaidi; Manuela Gambella; Michele Cavalli; Tanya Stojkovic; Sophie Demeret; Loic Le Guennec; Giorgia Querin; Nicolas Weiss; Marion Masingue; Laurent Magy; Karima Ghorab; Ia Rukhadze; Alexander Tsiskaridze; Marina Janelidze; Temur Margania; Florian Then Bergh; Eike Hänsel; Andrea Kalb; Bianca Meilick; Mandy Reuschel; Lars-Malte Teußer; Astrid Unterlauft; Clemens Goedel; Tim Hagenacker; Andreas Totzeck; Benjamin Stolte; Franz Blaes; Christine Bindler; Vasilios Tsoutsikas; Annekathrin Roediger; Christian Geis; Jens Schmidt; Jana Zschüntzsch; Margret Schwarz; Stefanie Meyer; Karsten Kummer; Stefanie Glaubitz; Rachel Zeng; Heinz Wiendl; Luisa Klotz; Anna Lammerskitten; Jan Lünemann; Péter Diószeghy; Lorenzo Maggi; Elena Rinaldi; Matteo Gastaldi; Federico Mazzacane; Pietro Businaro; Raffaele Iorio; Giovanni Antonini; Laura Fionda; Rita Rinaldi; Simone Rossi; Francesco Habetswallner; Francesco Tuccillo; Haruna Umehara; Eiko Uenaka; Masanori Takahashi; Keiko Higashi; Makoto Kinoshita; Emika Yoneda; Noriko Nakamura; Saeka Fujita; Tomoya Kubota; Masami Ono; Sana Yamamoto; Taku Hatano; Kazuki Oikoshi; Kazumasa Yokoyama; Yutaka Oji; Yuji Tomizawa; Akiyuki Uzawa; Manato Yasuda; Sachiko Akita; Yukiko Ozawa; Yosuke Onishi; Miki Takaki; Hiromi Yamada; Kanako Minemoto; Miki Sanko; Nanae Izawa; Mayumi Nakayama; Masayuki Masuda; Rune Tsuji; Nobuhiro Ido; Yumi Hyodo; Yoshihiko Okubo; Akiko Minohara; Nana Haraguchi; Makiko Naito; Seiko Yoshida; Yuri Fukushige; Akira Tsujino; Atsushi Nagaoka; Teiichiro Miyazaki; Shunsuke Yoshimura; Takuro Hirayama; Tomoaki Shima; Naoko Okamoto; Riki Matsumoto; Kenji Sekiguchi; Takehiro Ueda; Norio Chihara; Mari Kirimura; Emi Sunagawa; Ayaka Suzuki; Shigeaki Suzuki; Aozora Wada; Kei Ishizuchi; Yasushi Suzuki; Mitsuo Yata; Yuka Komatsu; Kenichi Tsukita; Genya Watanabe; Kazuki Sato; Emiko Kawasaki; Naoki Yamamoto; Hirohiko Ono; Tomoko Tsuda; Shigeki Ohashi; Yuka Fujisawa; Yumiko Yokota; Yuriko Nagane; Kameda Ayumi; Yuka Takematsu; Hiroyuki Naito; Takamichi Sugimoto; Kumiko Kuwada; Konrad Rejdak; Sebastian Szklener; Monika Kitowska; Kandyda Derkacz; Artur Druzdz; Tomasz Berkowicz; Paulina Budzinska; Marek Halas; Leonid Zaslavskiy; Evgeniya Skornyakova; Sergey Kotov; Ekaterina Novikova; Olga Sidorova; Vitalii Goldobin; Tatiana Alekseeva; Patimat Isabekova; Nadezhda Malkova; Denis Korobko; Gordana Djordjevic; Aleksandar Stojanov; Stojan Peric; Dragana Lavrnic; Ivo Bozovic; Aleksa Palibrk; Carlos Casasnovas; Velina Nedkova-Hristova; Nuria Vidal Fernández; Elena Cortés Vicente; Luis Querol Gutiérrez; Maria Salvadó Figueras; Anna Canovas Segura; Raúl Juntas Morales; Daniel Sanchez Tejerina; Albert Saiz; Yolanda Blanco Morgado; Sara Llufriú Durán; María Sepúlveda Gázquez; Eugenia María Martínez Hernández; Gerardo Gutiérrez Gutiérrez; Paqui Iniesta; José Meca Lallana; Yuh-Cherng Guo; Hou-Chang Chiu; Jiann-Horng Yeh; Ya Hui Chen; Mei Fen Lee; Yi-Chung Lee; Kuan Lin Lai; Said Beydoun; Salma Akhter; Lucy Lam; Alisha Thomas; Michael Rivner; Brandy Quarles; Dale Lange; Shara Holzberg; Pantelis Pavlakis; Ashwathy Goutham; Henry Kaminski; Radwa Aly; Lisa Ashworth; Kathryn Bender; Karie Bond; Joanne Buckner; Sara Byerly; James Caress; Jessyca Clemons; Asha Farmer; Catherine Franklin; Summer Harris; Meredith Hiatt; Rachana Gandhi Mehta; Gina Miller; Lynn Smith; Rose Smith; Brian Strittmatter; Tahseen Mozaffar; Isela Hernandez; Kelsey Moulton; Chafic Karam; Pranali Ravikumar; Catherine Lomen-Hoerth; Laura Rosow; Hannah George; Viktoriya Irodenko; Min Kang; Carol Denny; Bart Hanson; Sara Klein; Jennifer Martinez-Thompson; Elie Naddaf; Denny Padgett; Eric Sorenson; Jane L Sultze; Delena Weis; Kourosh Rezania; Jason Thonhoff; Sheetal Shroff; Robert Pascuzzi; Angela Micheels; Cynthia Bodkin; Adam Comer; Gelasio Baras; Renee Wagner; Zabeen Mahuwala; Stephen Ryan; Kai Su; Khema Sharma; Andrew Brown; Kore Liow
Bril, V, Drużdż, A, Grosskreutz, J, Habib, A A, Mantegazza, R, Sacconi, S, Utsugisawa, K, Vissing, J, Vu, T, Boehnlein, M, Bozorg, A, Gayfieva, M, Greve, B, Woltering, F, Kaminski, H J, MG0003 study team & Obál, I 2023, 'Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG) : a randomised, double-blind, placebo-controlled, adaptive phase 3 study', Lancet Neurology, vol. 22, no. 5, pp. 383-394. https://doi.org/10.1016/S1474-4422(23)00077-7
Bril, V, Drużdż, A, Grosskreutz, J, Habib, A A, Mantegazza, R, Sacconi, S, Utsugisawa, K, Vissing, J, Vu, T, Boehnlein, M, Greve, B, Woltering, F, Bozorg, A, Gayfieva, M, Kaminski, H J & MG0003 study team 2023, 'Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG) : a randomised, double-blind, placebo-controlled, adaptive phase 3 study', The Lancet Neurology, vol. 22, no. 5, pp. 383-394. https://doi.org/10.1016/S1474-4422(23)00077-7
Bril, V, Drużdż, A, Grosskreutz, J, Habib, A A, Mantegazza, R, Sacconi, S, Utsugisawa, K, Vissing, J, Vu, T, Boehnlein, M, Greve, B, Woltering, F, Bozorg, A, Gayfieva, M, Kaminski, H J & MG0003 study team 2023, 'Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG) : a randomised, double-blind, placebo-controlled, adaptive phase 3 study', The Lancet Neurology, vol. 22, no. 5, pp. 383-394. https://doi.org/10.1016/S1474-4422(23)00077-7
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Efthymiou, Stephanie; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Schröck, Evelin; Rump, Andreas; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Chinnery, Patrick F.; Ratnaike, Thiloka; Schon, Katherine; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; May, Patrick; Beeson, David; Cossins, Judith; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Afenjar, Alexandra; Goldenberg, Alice; Masurel, Alice; Phan, Alice; Dieux-Coeslier, Anne; Fargeot, Anne; Guerrot, Anne-Marie; Toutain, Annick; Molin, Arnaud; Sorlin, Arthur; Putoux, Audrey; Jouret, Béatrice; Laudier, Béatrice; Demeer, Bénédicte; Doray, Bérénice; Bonniaud, Bertille; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Leheup, Bruno; Reversade, Bruno; Paul, Carle; Vincent-Delorme, Catherine; Neiva, Cecilia; Poirsier, Céline; Quélin, Chloé; Chiaverini, Christine; Coubes, Christine; Francannet, Christine; Colson, Cindy; Desplantes, Claire; Wells, Constance; Goizet, Cyril; Sanlaville, Damien; Amram, Daniel; Lehalle, Daphné; Geneviève, David; Gaillard, Dominique; Zivi, Einat; Sarrazin, Elisabeth; Steichen, Elisabeth; Schaefer, Élise; Lacaze, Elodie; Jacquemin, Emmanuel; Bongers, Ernie; Kilic, Esra; Colin, Estelle; Giuliano, Fabienne; Prieur, Fabienne; Laffargue, Fanny; Morice-Picard, Fanny; Petit, Florence; Cartault, François; Feillet, François; Baujat, Geneviève; Morin, Gilles; Diene, Gwenaëlle; Journel, Hubert; Perthus, Isabelle; Lespinasse, James; Alessandri, Jean-Luc; Amiel, Jeanne; Martinovic, Jelena; Delanne, Julian; Albuisson, Juliette; Lambert, Laëtitia; Perrin, Laurence; Ousager, Lilian Bomme; Van Maldergem, Lionel; Pinson, Lucile; Ruaud, Lyse; Samimi, Mahtab; Bournez, Marie; Bonnet-Dupeyron, Marie Noëlle; Vincent, Marie; Jacquemont, Marie-Line; Cordier-Alex, Marie-Pierre; Gérard-Blanluet, Marion; Willems, Marjolaine; Spodenkiewicz, Marta; Doco-Fenzy, Martine; Rossi, Massimiliano; Renaud, Mathilde; Fradin, Mélanie; Mathieu, Michèle; Holder-Espinasse, Muriel H.; Houcinat, Nada; Hanna, Nadine; Leperrier, Nathalie; Chassaing, Nicolas; Philip, Nicole; Boute, Odile; Van Kien, Philippe Khau; Parent, Philippe; Bitoun, Pierre; Sarda, Pierre; Vabres, Pierre; Jouk, Pierre-Simon; Touraine, Renaud; El Chehadeh, Salima; Whalen, Sandra; Marlin, Sandrine; Passemard, Sandrine; Grotto, Sarah; Bellanger, Séverine Audebert; Blesson, Sophie; Nambot, Sophie; Naudion, Sophie; Lyonnet, Stanislas; Odent, Sylvie; Attie-Bitach, Tania; Busa, Tiffany; Drouin-Garraud, Valérie; Layet, Valérie; Bizaoui, Varoona; Cusin, Véronica; Capri, Yline; Alembik, Yves; Jean-Marçais, Nolwenn ; López-Martín, Estrella ; Macek, Milan ; Mencarelli, Maria Antonietta ; Moutton, Sébastien ; Pfundt, Rolph ; Safraou, Hana ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Tran Mau-Them, Frédéric ; de Vries, Bert B.A. ; Willemsen, Marjolein H. ; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
D. Bremond-Gignac; M. Robert; A. Daruich; V. Borderie; F. Chiambaretta; S. Valleix; Dominique Bremond-Gignac; Vincent Borderie; Jean-Louis Bourges; Patrick Calvas; Frédéric Chiambaretta; Henri Copin; Vincent Daien; Antoine Labbé; Béatrice Le Bail; Bruno Mortemousque; Matthieu Robert; Jean-Michel Rozet; Arnaud Sauer; Sophie Valleix; Daniel Aberdam; Marc Abitbol; Nathalie Aidan; Isabelle Audo; Nadia Bahi-Buisson; Emmanuelle Barbieri; Fernand Basille; Aurélie Bouet; Lénaïc Bruere; Joseph Bursztyn; Béatrice Cochener-Lamard; Alejandra Daruich-Matet; Danièle Denis; Philippe Denis; Nathalie De Vergnes; Adil El Maftouhi; Audrey Forbeaux Glize; Eric Gabison; Jean Philippe Grundeler; Louis Hoffart; Sophie Igla; Gaëlle Jouanjan; Elsa Laumonier Demory; Camille Leroy; Guylène Le Meur; Zoia Mincheva; Elisabeth Plat; Charlotte Rigal-Sastourne; Serge Romana; Antoine Rousseau; Rémi Salomon; Julie Steffann; Valérie Touitou; Alain Verloes
Journal Français d'Ophtalmologie. 45:647-652
Academic Journal
Bergqvist, Christina; Fertitta, Laura; Ezzedine, Khaled; Jannic, Arnaud; Zehou, Ouidad; Ferkal, Salah; Combemale, Patrick; Barbarot, Sébastien; Mazereeuw-Hautier, Juliette; Sbidian, Emilie; Wolkenstein, Pierre; Adamski, Henri; Baumann-Morel, Clarisse; Bellanné, Christine; Bieth, Eric; Bousquet, Pascal; Brandt, Christian; Balguerie, Xavier; Castelnau, Pierre; Chaix, Yves; Chevrant-Breton, Jacqueline; Collet, Evelyne; Cuny, Jean‐françois; Chastagner, Pascal; Chandeclerc, Marie‐lorraine; Cheuret, Emmanuel; Cintas, Pascal; Dollfus, Helene; Derancourt, Christian; Drouin-Garraud, Valérie; d'Incan, Michel; de Leersnyder, Hélène; Dereure, Olivier; Doumar, Diane; Fabre, Nicolas; Francannet, Christine; Faivre, Laurence; Fellmann, Florence; Feugier, Nathalie; Gaillard, Dominique; Goldenberg, Alice; Guyant-Marechal, Lucie; Guillot, Bernard; Guillamo, Jean‐sebastien; Hadj-Rabia, Smaïl; Hamel-Teillac, Dominique; Kemlin, Isabelle; Lacour, Jean‐philippe; Laithier, Veronique; Lesavre, Nathalie; Lyonnet, Stanislas; Maincent, Kim; Maradeix, Sophie; Machet, Laurent; Mansat, Eva; Meyer, Nicolas; Mozelle, Monique; Celine Moret, Jean Christophe Moreno; Puzenat, Eric; Parfait, Béatrice; Pinson, Stéphane; Pasmant, Eric; Rodriguez, Diana; Stalder, Jean‐françois; Schweitzer, Elisabeth; Thalamas, Claire; Thauvin, Christel; Vidaud, Dominique; Vidaud, Michel; Verloes, Alain; Zeller, Jacques
Journal of the European Academy of Dermatology and Venereology. 36:739-743
Academic Journal
Jonathan Lévy; Guillaume Cogan; Anna Maruani; Arnaud Maillard; Céline Dupont; Séverine Drunat; Myriam Rachid; Paola Atzori; Richard Delorme; Sabatini Jeyarajah; Bertrand Isidor; Olivier Pichon; Kamran Moradkhani; Alain Verloes; Anne‐Claude Tabet
Clinical Genetics. 101:364-370
Academic Journal
Claude Messiaen; Caroline Racine; Ahlem Khatim; Louis Soussand; Sylvie Odent; Didier Lacombe; Sylvie Manouvrier; Patrick Edery; Sabine Sigaudy; David Geneviève; Christel Thauvin-Robinet; Laurent Pasquier; Florence Petit; Massimiliano Rossi; Marjolaine Willems; Tania Attié-Bitach; Pierre-Henry Roux-Levy; Laurent Demougeot; Lilia Ben Slama; Paul Landais; the AnDDI-Rares network; Anne-Sophie Jannot; Christine Binquet; Arnaud Sandrin; Alain Verloes; Laurence Faivre
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Academic Journal
Colin, Estelle ; Huynh Cong, Evelyne ; Mollet, Géraldine ; Guichet, Agnès ; Gribouval, Olivier ; Arrondel, Christelle ; Boyer, Olivia ; Daniel, Laurent ; Gubler, Marie-Claire ; Ekinci, Zelal ; Tsimaratos, Michel ; Chabrol, Brigitte ; Boddaert, Nathalie ; Verloes, Alain ; Chevrollier, Arnaud ; Gueguen, Naig ; Desquiret-Dumas, Valérie ; Ferré, Marc ; Procaccio, Vincent ; Richard, Laurence ; Funalot, Benoit ; Moncla, Anne ; Bonneau, Dominique ; Antignac, Corinne
In The American Journal of Human Genetics 4 December 2014 95(6):637-648
Report
Benachi, Alexandra; Babajko, Sylvie; Barjat, Tiphaine; Beneteau, Claire; Jérémie, Botton; Brennetot, Naïma; Delva, Fleur; Demattei, Christophe; Garne, Ester; Haddad, Georges; Hocine, Mounia; Lacroix, Isabelle; Leuraud, Klervi; Manouvrier, Sylvie; Mench, Michel; Morris, Joan Katherine; Patrier-Sallebert, Sophie; Philippat, Claire; Sartelet, Arnaud; Verloes, Alain; Mselli-Lakhal, Laila; Menetrier, Florence; Stadler, Jeanne; Vasseur, Paule
Review
null Jonathan Lévy; null Guillaume Cogan; null Anna Maruani; null Arnaud Maillard; null Céline Dupont; null Séverine Drunat; null Myriam Rachid; null Paola Atzori; null Richard Delorme; null Sabatini Jeyarajah; null Bertrand Isidor; null Olivier Pichon; null Kamran Moradkhani; null Alain Verloes; null Anne‐Claude Tabet
Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Jannot, Anne-Sophie; Binquet, Christine; Sandrin, Arnaud; Verloes, Alain; Faivre, Laurence
Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Jannot, Anne-Sophie; Binquet, Christine; Sandrin, Arnaud; Verloes, Alain; Faivre, Laurence
Messiaen, Claude; Racine, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Geneviève, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attié-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Slama, Lilia Ben; Landais, Paul; Jannot, Anne-Sophie; Binquet, Christine; Sandrin, Arnaud; Verloes, Alain; Faivre, Laurence
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel Victor; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
Eur J Hum Genet
European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J,Verloes , A, Abbott, C M & Ruaud, L 2024, ' Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01560-8
European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J,
Academic Journal
Journal of Neurology. February 2005 252(2):232-233
Academic Journal
Cessans, Catie; Ehlinger, Virginie; Arnaud, Catherine; Yart, Armelle; Capri, Yline; Barat, Pascal; Cammas, Benoit; Lacombe, Didier; Coutant, Regis; David, Albert; Baron, Sabine; Weill, Jacques; Leheup, Bruno; Nicolino, Marc; Salles, Jean-Pierre; Verloes, Alain; Tauber, Maithe; Cave, Helene; Edouard, Thomas
Academic Journal
Brioude, Frédéric; Netchine, Irène; Praz, Françoise; Le Jule, Marilyne; Calmel, Claire; Lacombe, Didier; Edery, Patrick; Catala, Martin; Odent, Sylvie; Isidor, Bertrand; Lyonnet, Stanislas; Sigaudy, Sabine; Leheup, Bruno; Audebert-Bellanger, Séverine; Burglen, Lydie; Giuliano, Fabienne; Alessandri, Jean-Luc; Cormier-Daire, Valérie; Laffargue, Fanny; Blesson, Sophie; Coupier, Isabelle; Lespinasse, James; Blanchet, Patricia; Boute, Odile; Baumann, Clarisse; Polak, Michel; Doray, Bérénice; Verloes, Alain; Viot, Géraldine; Le Bouc, Yves; Rossignol, Sylvie
Human Mutation. 36:894-902
Academic Journal
Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, Franois; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Sparta, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Junior, Hercilio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnes; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert
Academic Journal
Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E.; Bhoj, E.; Bonneau, D.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, Cindy; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L.J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, Clarisse; Francannet, C.; Geneviève, D.; Giurgea, I.; Goldenberg, A.; Green, A.; Guerrot, A.; Heron, D.; Isidor, B.; Keena, B.; Krock, B.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V.; Gérard, B.; Ghoumid, Jamal
Neurogenetics
Academic Journal
Fergelot, Patricia; van Belzen, Martine; van Gils, Julie; Afenjar, Alexandra; Armour, Christine; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christine; García-Miñaur, Sixto; Gabau Vila, Elisabeth; Gebre-Medhin, Samuel; Gener Querol, Blanca; Geneviève, David; Gérard, Marion; Gervasini, Cristina Giovanna; Goldenberg, Alice; Josifova, Dragana; Lachlan, Katherine; Maas, Saskia; Maranda, Bruno; Moilanen, Jukka; Nordgren, Ann; Parent, Philippe; Rankin, Julia; Reardon, Willie; Rio, Marlène; Roume, Joëlle; Shaw, Adam; Smigiel, Robert; Sojo, Amaia; Solomon, Benjamin; Stembalska, Agnieszka; Stumpel, Constance; Suarez, Francisco; Terhal, Paulien; Thomas, Simon; Touraine, Renaud; Verloes, Alain; Vincent-Delorme, Catherine; Wincent, Josephine; Peters, Dorien; Bartsch, Oliver; Larizza, Lidia; Lacombe, Didier; Hennekam, Raoul
American Journal of Medical Genetics. Part A, 170, 12, pp. 3069-3082
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