학술논문
'학술논문'
에서 검색결과 810건 | 목록
1~10
Academic Journal
Hamamie-Chaar, Angélique; Renaud, Mathilde; Gençpinar, Pinar; Bruel, Ange-Line; Philippe, Christophe; Maraval, Julien; Racine, Caroline; Hadouiri, Nawale; Lambert, Laetitia; Schmitt, Emmanuelle; Banneau, Guillaume; Hocquel, Armand; Thauvin-Robinet, Christel; Faivre, Laurence; Thomas, Quentin
Journal of Neurology. :1-6
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariëtte J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-José H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Human Genetics. 143(6):761-773
Academic Journal
Jourdy, Yohann; Chatron, Nicolas; Frétigny, Mathilde; Zawadzki, Christophe; Lienhart, Anne; Stieltjes, Natalie; Rohrlich, Pierre-Simon; Thauvin-Robinet, Christel; Volot, Fabienne; Hamida, Yasmine Ferhat; Hariti, Ghania; Leuci, Alexandre; Dargaud, Yesim; Sanlaville, Damien; Vinciguerra, Christine
In Journal of Thrombosis and Haemostasis June 2024 22(6):1616-1626
Academic Journal
Lecoquierre, François; Punt, A. Mattijs; Ebstein, Frédéric; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Sébastien; Tran Mau-Them, Frédédic; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Martinez Ojeda, Mayra; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krüger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Nicolas, Gaël; Zaréa, Aline; Lacour, Morgane; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Bonnevalle, Antoine; Schramm, Catherine; Olaso, Robert; Sandron, Florian; Boland, Anne; Deleuze, Jean-François; Andriuta, Daniela; Anthony, Pierre; Auriacombe, Sophie; Balageas, Anna-Chloé; Ballan, Guillaume; Barbay, Mélanie; Béjot, Yannick; Belliard, Serge; Benaiteau, Marie; Bennys, Karim; Bombois, Stéphanie; Boutoleau-Bretonnière, Claire; Branger, Pierre; Carlier, Jasmine; Cartz-Piver, Leslie; Cassagnaud, Pascaline; Ceccaldi, Mathieu-Pierre; Chauviré, Valérie; Chen, Yaohua; Cogez, Julien; Cognat, Emmanuel; Contegal-Callier, Fabienne; Corneille, Léa; Couratier, Philippe; Cretin, Benjamin; Crinquette, Charlotte; Dauriat, Benjamin; Dautricourt, Sophie; de la Sayette, Vincent; de Liège, Astrid; Deffond, Didier; Demurger, Florence; Deramecourt, Vincent; Derollez, Céline; Dionet, Elsa; Doco Fenzy, Martine; Dumurgier, Julien; Dutray, Anaïs; Etcharry-Bouyx, Frédérique; Formaglio, Maïté; Gabelle, Audrey; Gainche-Salmon, Anne; Godefroy, Olivier; Graber, Mathilde; Gregoire, Chloé; Grimaldi, Stephan; Gueniat, Julien; Gueriot, Claude; Guillet-Pichon, Virginie; Haffen, Sophie; Hanta, Cezara-Roxana; Hardy, Clémence; Hautecloque, Geoffroy; Heitz, Camille; Hourregue, Claire; Jonveaux, Thérèse; Jurici, Snejana; Koric, Lejla; Krolak-Salmon, Pierre; Lagarde, Julien; Lanoiselée, Hélène-Marie; Laurens, Brice; Le Ber, Isabelle; Le Guyader, Gwenaël; Leblanc, Amélie; Lebouvier, Thibaud; Levy, Richard; Lippi, Anaïs; Mackowiak, Marie-Anne; Magnin, Eloi; Marelli, Cecilia; Martinaud, Olivier; Maureille, Aurelien; Migliaccio, Raffaella; Milongo-Rigal, Emilie; Mohr, Sophie; Mollion, Hélène; Morin, Alexandre; Nivelle, Julia; Noiray, Camille; Olivieri, Pauline; Paquet, Claire; Pariente, Jérémie; Pasquier, Florence; Perron, Alexandre; Philippi, Nathalie; Planche, Vincent; Pouclet-Courtemanche, Hélène; Rafiq, Marie; Rollin-Sillaire, Adeline; Roué-Jagot, Carole; Saracino, Dario; Sarazin, Marie; Sauvée, Mathilde; Sellal, François; Teichmann, Marc; Thauvin, Christel; Thomas, Quentin; Tisserand, Camille; Turpinat, Cédric; Van Damme, Laurène; Vercruysse, Olivier; Villain, Nicolas; Wagemann, Nathalie; Charbonnier, Camille; Wallon, David
In Genetics in Medicine May 2024 26(5)
Academic Journal
Verdez, Simon; Bardou, Marc; Duffourd, Yannis; Luu, Maxime; Thauvin-Robinet, Christel; Faivre, Laurence; Picard, Nicolas
In Therapies May-June 2024 79(3):341-349
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Academic Journal
Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frédéric Tran; Safraou, Hana; Boughalem, Aïcha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis
European Journal of Human Genetics. 31(7):761-768
Academic Journal
Vezain, Myriam; Thauvin-Robinet, Christel; Vial, Yoann; Coutant, Sophie; Drunat, Séverine; Urtizberea, Jon Andoni; Rolland, Anne
Human Genetics. January, 2023, Vol. 142 Issue 1, p125, 14 p.
Academic Journal
Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesús; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Débora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christèle; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Pérez Millán, María Inés; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
In Genetics in Medicine April 2024 26(4)
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)
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