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
Volpe, Joseph J.; Posner, John; Kellner, Ulrich; Quinlivan, Rosaline; Daron, Aurore; Delstanche, Stéphanie; Bruninx, Romain; Dal Farra, Fabian; Schneider, Olivier; Deconinck, Nicolas; Balikova, Irina; Delbeke, Patricia; Joniau, Inge; Tahon, Valentine; Wittevrongel, Sylvia; De Vos, Elke; Goemans, Nathalie; Casteels, Ingele; De Waele, Liesbeth; Cassiman, Catherine; Prové, Lies; Kinoo, David; Vancampenhout, Lisa; Van Den Hauwe, Marleen; Van Impe, Annelies; Prufer de Queiroz Campos Araujo, Alexandra; Chacon Pereira, Aline; Nardes, Flávia; Haefeli, Lorena; Rossetto, Julia; Ferreira Rebel, Marcos; Almeida Pereira, Jaqueline; Campbell, Craig; Sharan, Sapna; McDonald, Wendy; Scholtes, Cheryl; Mah, Jean; Sframeli, Maria; Chiu, Angela; Hagel, Jane; Oskoui, Maryam; Beneish, Raquel; Cariou-Palmer, Gaela; Pham, Connie; Toffoli, Daniela; Arpin, Stephanie; Turgeon Desilets, Sarah; Wang, Yi; Hu, Chaoping; Huan, Jianfeng; Qian, Chen; Shen, Li; Xiao, Ying; Zhou, Zhenxuan; Li, Hui; Wang, Sujuan; Xiong, Hui; Chang, Xingzhi; Dong, Hui; Liu, Ying; Sang, Tian; Wei, Cuijie; Wen, Jing; Cao, Yiwen; Ly, Xingyao; Zhao, Jingjing; Li, Wenzhu; Qin, Lun; Barisic, Nina; Galiot Delic, Martina; Ivkic, Petra Kristina; Vukojevic, Nenad; Kern, Ivana; Najdanovic, Boris; Skugor, Marin; Servais, Laurent; Boespflug-Tanguy, Odile; Gidaro, Teresa; Seferian, Andreea; De Lucia, Silvana; Barreau, Emmanuel; Mnafek, Nabila; Momtchilova, Marta Milkova; Peche, Helene; Valherie, Carole; Grange, Allison; Lilien, Charlotte; Milascevic, Darko; Tachibana, Shotaro; Ravelli, Claudia; Cardas, Ruxandra; Taytard, Jessica; Aubertin, Guillaume; Vanden Brande, Laure; Davion, Jean-Baptiste; Coopman, Stephanie; Bouacha, Ikram; Debruyne, Philippe; Defoort, Sabine; Derlyn, Gilles; Leroy, Florian; Danjoux, Loïc; Guilbaud, Julie; Desguerre, Isabelle; Barnérias, Christine; Semeraro, Michaela; Bremond-Gignac, Dominique; Bruere, Lenaic; Rateaux, Maxence; Deladrière, Élodie; Germa, Virginie; Pereon, Yann; Mercie, Sandra; Billaud, Fanny; Le Goff, Lucie; Letellier, Guy; Vuillerot, Carole; Portefaix, Aurélie; De-Montferrand, Camille; Le-Goff, Laure; Fontaine, Stephanie; Saidi, Manel; Bouzid, Nabil; Barriere, Aurélie; Tinat, Marie; Kirschner, Janbernd; Dreesbach, Michelle; Lagréze, Wolf; Michaelis, Bettina; Molnar, Fanni; Seger, Dorina; Vogt, Sibylle; Bertini, Enrico; D'Amico, Adele; Petroni, Sergio; Bonetti, Anna Maria; Carlesi, Adelina; Mizzoni, Irene; Bruno, Claudio; Priolo, Enrico; Rao, Giuseppe; Morando, Simone; Tacchetti, Paola; Zuffi, Ambra; Comi, Giacomo Pietro; Brusa, Roberta; Corti, Stefania; Daniele, Velardo; Govoni, Alessandra; Magri, Francesca; Minorini, Valeria; Osnaghi, Silvia Gabriella; Abbati, Francesca; Fassini, Federica; Foa, Michaela; Lopopolo, Amaqlia; Meneri, Megi; Zoppas, Francesca; Parente, Valeria; Baranello, Giovanni; Masson, Riccardo; Bianchi Marzoli, Stefania; Santarsiero, Diletta; Garcia Sierra, Myriam; Tremolada, Gemma; Arnoldi, Maria Teresa; Vigano, Marta; Zanin, Riccardo; Mercuri, Eugenio; Antonaci, Laura; de Sanctis, Roberto; Pane, Marika; Pera, Maria Carmela; Amorelli, Giulia Maria; Barresi, Costanza; D'Amico, Gugliemo; Orazi, Lorenzo; Coratti, Giorgia; Haginoya, Kazuhiro; Kato, Atsuko; Morishita, Yuko; Kira, Ryutaro; Akiyama, Kiyomu; Goto, Miwako; Mori, Yujiro; Okamoto, Misato; Tsutsui, Saki; Takatsuji, Yuta; Tanaka, Aya; Komaki, Hirofumi; Omori, Miina; Suzuki, Ippei; Takeuchi, Mizuki; Todoroki, Daisuke; Watanabe, Seji; Matsubayashi, Tomoko; Inakazu, Emi; Nagura, Hiroe; Suzuki, Akira; Usui, Manami; Ishikawa, Nobutsune; Harada, Yousuke; Fudeyasu, Kenishi; Hirata, Kazuhiko; Michiue, Kana; Ueda, Kazuyuki; Saito, Kayoko; Fujitani, Junko; Arakawa, Reiko; Takano, Kozue; Yashiro, Shigeko; Seki, Maiko; Sano, Nozomi; Fukuyama, Koji; Matsumoto, Yuki; Miyazaki, Hirofumi; Shibata, Minoru; Kobayashi, Kyoko; Nakamura, Yukie; Takeshima, Yasuhiro; Kuma, Moe; Kostera-Pruszczyk, Anna; Fraczek, Anna; Jedrzejowska, Maria; Lusakowska, Anna; Czeszyk-Piotrowicz, Agnieszka; Hautz, Wojciech; Rakusiewicz, Klaudia; Burlewicz, Malgorzata; Gierlak-Wojcicka, Zuzanna; Kepa, Malwina; Sikorski, Adam; Sobieraj, Marcin; Mazurkiewicz-Beldzinska, Maria; Lemska, Anna; Modrzejewska, Sandra; Koberda, Mateusz; Stodolska-Koberda, Urszula; Waskowska, Agnieszka; Kolendo, Jagoda; Sobierajska-Rek, Agnieszka; Steinborn, Barbara; Dalz, Magdalena; Grabowska, Julia; Hajduk, Wojciech; Janasiewicz-Karachitos, Justyna; Klimas, Monika; Stopa, Marcin; Gajewska, Ewa; Pusz, Beata; Vlodavets, Dmitry; Melnik, Evgenia; Leppenen, Natalya; Yupatova, Nataliya; Monakhova, Anastasya; Papina, Yulia; Shidlovsckaia, Olga; Milic Rasic, Vedrana; Brankovic, Vesna; Kosac, Ana; Djokic, Olivera; Jakšic, Vesna; Pepic, Ana; Martinovic, Jelena; Munell Casadesus, Francina; Tizzano, Eduardo; Martín Begué, Nieves; Wolley Dod, Charlotte; Subira, Olaia; Planas Pascual, Bernat; Toro Tamargo, Esther; Madruga Garrido, Marcos; Medina Romero, José David; Salinas, Marta Peña; Nascimento Osorio, Andrés; Díaz Cortés, Ana; Jiménez Gañan, Enrique; Suh, Simone Dowon; Medina Cantillo, Julita; Moya, Obdulia; Padros, Nuria; Urraca, Sandra Roca; Valdivia, Hugo Gonzalez; Pascual Pascual, Samuel; de Manuel, Sofía; Martin, Susana Noval; Burnham, Paul; Espinosa, Sandra; Moreno, Mercedes Martinez; Topaloglu, Haluk; Oncel, Ibrahim; Eroglu Ertugru, Nesibe; Konuskan, Bahadir; Eldem, Bora; Kadayifçilar, Sibel; Alemdaroglu, Ipek; Karaduman, Aynur Ayse; Yilmaz, Oznur Tunca; Bilgin, Neslihan; Sari, Seher; Chiriboga, Claudia; Lee, John J.; Rome-Martin, Donnielle; Day, John W.; Beres, Shannon; Duong, Tina; Gee, Richard; Dunaway Young, Sally; Fuerst-Recktenwald, Sabine; Marquet, Anne; Muelhardt, Nicoletta; Trundell, Dylan; Mazzone, Elena S; Nascimento, Andres; Gerber, Marianne; Gorni, Ksenija; Khwaja, Omar; Kletzl, Heidemarie; Scalco, Renata S; Staunton, Hannah; Yeung, Wai Yin; Martin, Carmen; Fontoura, Paulo; Day, John W
In The Lancet Neurology January 2022 21(1):42-52
Academic Journal
Wilpert, Nina-Maria; Marguet, Florent; Maillard, Camille; Guimiot, Fabien; Martinovic, Jelena; Drunat, Séverine; Attié-Bitach, Tania; Razavi, Ferechté; Tessier, Aude; Capri, Yline; Laquerrière, Annie; Bahi-Buisson, Nadia
In European Journal of Medical Genetics September 2021 64(9)
Academic Journal
Martinovic, Jelena; Samardzic, Janko; Zaric Kontic, Marina; Ivkovic, Sanja; Dacic, Sanja; Major, Tamara; Radosavljevic, Milica; Svob Strac, Dubravka
Academic Journal
Benachi, Alexandra; Rabant, Marion; Martinovic, Jelena; Bouchghoul, Hanane; Vivanti, Alexandre J.; Leon, Juliette; Grunenwald, Anne; Roumenina, Lubka; Celton, Jean-Louis; Bessieres, Bettina; Taupin, Jean-Luc; Zuber, Julien
In American Journal of Obstetrics and Gynecology December 2021 225(6):662-662
Academic Journal
In Journal of Applied Biomedicine July 2017 15(3):204-209
Academic Journal
van der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E.M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C.P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O’Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W.E.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Zaric Kontic, Marina; Dragic, Milorad; Martinovic, Jelena; Mihajlovic, Katarina; Brkic, Zeljka; Mitrovic, Natasa; Grkovic, Ivana
Academic Journal
Raymond, Laure; Francou, Bruno; Petit, François; Tosca, Lucie; Briand-Suleau, Audrey; Metay, Corinne; Martinovic, Jelena; Cordier, Anne-Gaël; Benachi, Alexandra; Pineau, Dominique; Guiochon-Mantel, Anne; Goossens, Michel; Tachdjian, Gérard; Brisset, Sophie
In European Journal of Medical Genetics November 2015 58(11):591-596
Academic Journal
Poirier, Karine; Martinovic, Jelena; Laquerrière, Annie; Cavallin, Mara; Fallet-Bianco, Catherine; Desguerre, Isabelle; Valence, Stephanie; Grande-Goburghun, Jocelyne; Francannet, Christine; Deleuze, Jean-François; Boland, Anne; Chelly, Jamel; Bahi-Buisson, Nadia
In European Journal of Medical Genetics August 2015 58(8):416-418
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