학술논문
'학술논문'
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1~10
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
Baer, Sarah; Tuzin, Nicolas; Kang, Peter B.; Mohammed, Shehla; Kubota, Masaya; van Ierland, Yvette; Busa, Tiffany; Rossi, Massimiliano; Morel, Godelieve; Michot, Caroline; Baujat, Geneviève; Durand, Myriam; Obringer, Cathy; Le May, Nicolas; Calmels, Nadège; Laugel, Vincent
In European Journal of Medical Genetics January 2021 64(1)
Academic Journal
Pignolo, Robert J.; Al Mukaddam, Mona; Baujat, Geneviève; Brown, Matthew A.; De Cunto, Carmen; Hsiao, Edward C.; Keen, Richard; Le Quan Sang, Kim-Hanh; Grogan, Donna R.; Marino, Rose; Strahs, Andrew R.; Kaplan, Frederick S.
Academic Journal
Pignolo, Robert J.; Cheung, Kin; Kile, Sammi; Fitzpatrick, Mary Anne; De Cunto, Carmen; Al Mukaddam, Mona; Hsiao, Edward C.; Baujat, Genevieve; Delai, Patricia; Eekhoff, Elisabeth M.W.; Di Rocco, Maja; Grunwald, Zvi; Haga, Nobuhiko; Keen, Richard; Levi, Benjamin; Morhart, Rolf; Scott, Christiaan; Sherman, Adam; Zhang, Keqin; Kaplan, Fredrick S.
In Bone May 2020 134
Academic Journal
Faudi, Emilien; Brischoux-Boucher, Elise; Huber, Céline; Dabudyk, Thibaud; Lenoir, Marion; Baujat, Geneviève; Michot, Caroline; Van Maldergem, Lionel; Cormier-Daire, Valérie; Piard, Juliette
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Marzin, Pauline; Baujat, Geneviève; Gensburger, Déborah; Huber, Céline; Bole, Christine; Panuel, Michel; Finidori, Georges; De la Dure, Muriel; Cormier-Daire, Valérie
In European Journal of Medical Genetics February 2020 63(2)
Academic Journal
Distinguin, Léa; Louis, Bruno; Baujat, Geneviève; Amaddeo, Alessandro; Fauroux, Brigitte; Couloigner, Vincent; Simon, François; Leboulanger, Nicolas
In International Journal of Pediatric Otorhinolaryngology December 2019 127
Academic Journal
In Revue du Rhumatisme monographies February 2019 86(1):40-45
Academic Journal
Addor, Marie-Claude; Andrieux, Joris; Arveiler, Benoît; Baujat, Geneviève; Sloan-Béna, Frédérique; Belfiore, Marco; Bonneau, Dominique; Bouquillon, Sonia; Boute, Odile; Brusco, Alfredo; Busa, Tiffany; Caberg, Jean-Hubert; Campion, Dominique; Colombert, Vanessa; Cordier, Marie-Pierre; David, Albert; Debray, François-Guillaume; Delrue, Marie-Ange; Doco-Fenzy, Martine; Dunkhase-Heinl, Ulrike; Edery, Patrick; Fagerberg, Christina; Faivre, Laurence; Forzano, Francesca; Genevieve, David; Gérard, Marion; Giachino, Daniela; Guichet, Agnès; Guillin, Olivier; Héron, Delphine; Isidor, Bertrand; Jacquette, Aurélia; Jaillard, Sylvie; Journel, Hubert; Keren, Boris; Lacombe, Didier; Lebon, Sébastien; Le Caignec, Cédric; Lemaître, Marie-Pierre; Lespinasse, James; Mathieu-Dramart, Michèle; Mercier, Sandra; Mignot, Cyril; Missirian, Chantal; Petit, Florence; Pilekær Sørensen, Kristina; Pinson, Lucile; Plessis, Ghislaine; Prieur, Fabienne; Rooryck-Thambo, Caroline; Rossi, Massimiliano; Sanlaville, Damien; Schlott Kristiansen, Britta; Schluth-Bolard, Caroline; Till, Marianne; Van Haelst, Mieke; Van Maldergem, Lionel; Alupay, Hanalore; Aaronson, Benjamin; Ackerman, Sean; Ankenman, Katy; Anwar, Ayesha; Atwell, Constance; Bowe, Alexandra; Beaudet, Arthur L.; Benedetti, Marta; Berg, Jessica; Berman, Jeffrey; Berry, Leandra N.; Bibb, Audrey L.; Blaskey, Lisa; Brennan, Jonathan; Brewton, Christie M.; Buckner, Randy; Bukshpun, Polina; Burko, Jordan; Cali, Phil; Cerban, Bettina; Chang, Yishin; Cheong, Maxwell; Chow, Vivian; Chu, Zili; Chudnovskaya, Darina; Cornew, Lauren; Dale, Corby; Dell, John; Dempsey, Allison G.; Deschamps, Trent; Earl, Rachel; Edgar, James; Elgin, Jenna; Olson, Jennifer Endre; Evans, Yolanda L.; Findlay, Anne; Fischbach, Gerald D.; Fisk, Charlie; Fregeau, Brieana; Gaetz, Bill; Gaetz, Leah; Garza, Silvia; Gerdts, Jennifer; Glenn, Orit; Gobuty, Sarah E.; Golembski, Rachel; Greenup, Marion; Heiken, Kory; Hines, Katherine; Hinkley, Leighton; Jackson, Frank I.; Jenkins, Julian, III; Jeremy, Rita J.; Johnson, Kelly; Kanne, Stephen M.; Kessler, Sudha; Khan, Sarah Y.; Ku, Matthew; Kuschner, Emily; Laakman, Anna L.; Lam, Peter; Lasala, Morgan W.; Lee, Hana; LaGuerre, Kevin; Levy, Susan; Cavanagh, Alyss Lian; Llorens, Ashlie V.; Campe, Katherine Loftus; Luks, Tracy L.; Marco, Elysa J.; Martin, Stephen; Martin, Alastair J.; Marzano, Gabriela; Masson, Christina; McGovern, Kathleen E.; McNally Keehn, Rebecca; Miller, David T.; Miller, Fiona K.; Moss, Timothy J.; Murray, Rebecca; Nagarajan, Srikantan S.; Nowell, Kerri P.; Owen, Julia; Paal, Andrea M.; Packer, Alan; Page, Patricia Z.; Paul, Brianna M.; Peters, Alana; Peterson, Danica; Poduri, Annapurna; Pojman, Nicholas J.; Porche, Ken; Proud, Monica B.; Qasmieh, Saba; Ramocki, Melissa B.; Reilly, Beau; Roberts, Timothy P.L.; Shaw, Dennis; Sinha, Tuhin; Smith-Packard, Bethanny; Gallagher, Anne Snow; Swarnakar, Vivek; Thieu, Tony; Triantafallou, Christina; Vaughan, Roger; Wakahiro, Mari; Wallace, Arianne; Ward, Tracey; Wenegrat, Julia; Wolken, Anne; Martin-Brevet, Sandra; Rodríguez-Herreros, Borja; Nielsen, Jared A.; Moreau, Clara; Modenato, Claudia; Maillard, Anne M.; Pain, Aurélie; Richetin, Sonia; Jønch, Aia E.; Qureshi, Abid Y.; Zürcher, Nicole R.; Conus, Philippe; Chung, Wendy K.; Sherr, Elliott H.; Spiro, John E.; Kherif, Ferath; Beckmann, Jacques S.; Hadjikhani, Nouchine; Reymond, Alexandre; Buckner, Randy L.; Draganski, Bogdan; Jacquemont, Sébastien
In Biological Psychiatry 15 August 2018 84(4):253-264
Academic Journal
Mantick, Neal; Bachman, Eric; Baujat, Genevieve; Brown, Matt; Collins, Oliver; De Cunto, Carmen; Delai, Patricia; Eekhoff, Marelise; zum Felde, Roger; Grogan, Donna Roy; Haga, Nobuhiko; Hsiao, Edward; Kantanie, Sharon; Kaplan, Frederick; Keen, Richard; Milosevic, Jelena; Morhart, Rolf; Pignolo, Robert; Qian, Xiaobing; di Rocco, Maja; Scott, Christiaan; Sherman, Adam; Wallace, Marin; Williams, Nicky; Zhang, Keqin; Bogard, Betsy
In Bone April 2018 109:285-290
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