학술논문
'학술논문'
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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
Caridi, Gianluca; Lugani, Francesca; Rigat, Brigitte; Van den Abeele, Patrick; Layet, Valérie; Gavard, Marie-Sophie; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo
In European Journal of Medical Genetics February 2019 62(2):144-148
Academic Journal
Grelet, Maude; Blanck, Véronique; Sigaudy, Sabine; Philip, Nicole; Giuliano, Fabienne; Khachnaoui, Khaoula; Morel, Godelieve; Grotto, Sarah; Sophie, Julia; Poirsier, Céline; Lespinasse, James; Alric, Laurent; Calvas, Patrick; Chalhoub, Gihane; Layet, Valérie; Molin, Arnaud; Colson, Cindy; Marsili, Luisa; Edery, Patrick; Lévy, Nicolas
Academic Journal
Derrey, Stéphane; Proust, Francois; Debono, Bertrand; Langlois, Olivier; Layet, Antoine; Layet, Valérie; Longy, Michel; Fréger, Pierre; Laquerrière, Annie
In Surgical Neurology 2004 61(5):447-454
Academic Journal
Huynh, Minh‐Tuan; Degre, Sophie; Joly‐Helas, Géraldine; Bréon, Cathy; Potel, Stéphanie; Chambon, Pascal; Bouligand, Jérôme; Layet, Valérie
American Journal of Medical Genetics. Part A; Dec2022, Vol. 188 Issue 12, p3550-3554, 5p
Academic Journal
Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie
In European Journal of Medical Genetics July 2013 56(7):365-370
Academic Journal
Sanson, Benoît; Stalens, Caroline; Guien, Céline; Villa, Luisa; Eng, Catherine; Rabarimeriarijaona, Sitraka; Bernard, Rafaëlle; Cintas, Pascal; Solé, Guilhem; Tiffreau, Vincent; Echaniz-Laguna, Andoni; Magot, Armelle; Juntas Morales, Raul; Boyer, François Constant; Nadaj-Pakleza, Aleksandra; Jacquin-Piques, Agnès; Béroud, Christophe; Sacconi, Sabrina; Acket, Blandine; Antoine, Jean-Christophe; Attarian, Shahram; Bassez, Guillaume; Bédat-Millet, Anne-Laure; Béhin, Anthony; Bellance, Rémi; Bisciglia, Michela; Bombart, Véronique; Boitet, Rosalie; Bonnet, Pascale; Bouhour, Françoise; Boutte, Célia; Chabrol, Brigitte; Chanson, Jean-Baptiste; Chapon, Françoise; Choumert, Ariane; Coignard, Pauline; Cornu, Jean-Yves; Daubail, Benoît; De La Cruz, Elisa; Declerck, Léa; Delattre, Capucine; Demurger, Florence; Dulieu, Véronique; Duruflé, Aurélie; Duval, Fanny; Esselin, Florence; Evangelista, Teresinha; Eymard, Bruno; Faivre, Anthony; Féasson, Léonard; Ferrer, Xavier; Feuvrier, François; Flabeau, Olivier; Fradin, Mélanie; Furby, Alain; Garcia, Jérémy; Gervais-Bernard, Hélène; Gidaro, Teresa; Ghorab, Karima; Jeanpierre, Marc; Journel, Hubert; Lacour, Arnaud; Laforêt, Pascal; Lagrange, Emmeline; Layet, Valérie; Leclaire, Gérard; Le Guiet, Jean-Luc; Le Guyader, Gwenaël; Leroy, François; Leturcq, France; Lévy, Nicolas; Léonard-Louis, Sarah; Magy, Laurent; Malfatti, Edoardo; Masingue, Marion; Mazaltarine, Gilles; Ménard, Dominique; Michaud, Maud; Minot-Myhié, Marie-Christine; Morard, Marie-Doriane; Nectoux, Juliette; Nguyen, Karine; Nicomette, Julie; Noury, Jean-Baptiste; Pellieux, Sybille; Percebois-Macadré, Laetitia; Péréon, Yann; Perrin-Callot, Solange; Petiot, Philippe; Peudenier, Sylviane; Pontier, Bénédicte; Portet, Florence; Pouget, Jean; Preudhomme, Marguerite; Rauscent, Hélène; Renard, Dimitri; Riou, Audrey; Rivier, François; Salort-Campana, Emmanuelle; Schaeffer, Stéphane; Simon, Jean-Philippe; Siri, Aurélie; Spinazzi, Marco; Stokovic, Tanya; Svahn, Juliette; Tabaraud, François; Taithe, Frédéric; Tard, Céline; Thauvin, Christel; Thoumie, Philippe; Tournier-Gervason, Claire-Lise; Tranchant, Christine; Urtizberea, Jon Andoni; Vial, Christophe; Vidaud, Michel; Zagnoli, Fabien
Orphanet Journal of Rare Diseases. March 2, 2022, Vol. 17 Issue 1
Academic Journal
Coste, Thibault; Hervé, Dominique; Neau, Jean Philippe; Jouvent, Eric; Ba, Fatoumata; Bergametti, Françoise; Lamy, Matthias; Cogez, Julien; Derache, Nathalie; Schneckenburger, Romain; Grelet, Maude; Gollion, Cédric; Lanotte, Livia; Lauer, Valérie; Layet, Valérie; Urbanczyk, Cédric; Didic, Mira; Raynouard, Igor; Delaval, Laure; Dassa, Jérémie
Academic Journal
Minh-Tuan Huynh; Degre, Sophie; Joly-Helas, Geraldine; Breon, Cathy; Potel, Stephanie; Chambon, Pascal; Bouligand, Jerome; Layet, Valerie
Academic Journal
Castéra, Laurent; Krieger, Sophie; Rousselin, Antoine; Legros, Angélina; Baumann, Jean-Jacques; Bruet, Olivia; Brault, Baptiste; Fouillet, Robin; Goardon, Nicolas; Letac, Olivier; Baert-Desurmont, Stéphanie; Tinat, Julie; Bera, Odile; Dugast, Catherine; Berthet, Pascaline; Polycarpe, Florence; Layet, Valérie; Hardouin, Agnes; Frébourg, Thierry; Vaur, Dominique
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