학술논문
'학술논문'
에서 검색결과 169건 | 목록
1~10
Academic Journal
Azmanov, Dimitar N.; Barnett, Christopher P.; Barry, Simon C.; Baynam, Gareth; Berkovic, Samuel F.; Christodoulou, John; Coman, David J.; Cooper, Sandra; Corbett, Mark A.; Delatycki, Martin; Dudding, Tracy E.; Fletcher, Sue; Gardner, Alison E.; Gecz, Jozef; Higgins, Megan J.; Hildebrand, Michael S.; Jolly, Lachlan A.; Lister, Ryan; McGaughran, Julie; Pflueger, Christian; Poulton, Cathryn; Roscioli, Tony; Hamish S. Scott, Ingrid Scheffer; Sinclair, Andrew H.; Spurdle, Amanda B.; Tan, Tiong Y.; van Eyk, Clare L.; Voineagu, Irina; Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Gardner, Alison; Ritchie, Tarin; Kroes, Thessa; Scheffer, Ingrid E.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John; Gonzalez, Tina; Ghedia, Sondhya; Marchant, Rhett G.; Bournazos, Adam; Wong, Wui-Kwan; Webster, Richard I.; Evesson, Frances J.; Jones, Kristi J.; Cooper, Sandra T.
In The American Journal of Human Genetics 8 August 2024 111(8):1673-1699
Academic Journal
Lançon, Allan; Beaudouin, Amandine; Lambert, Laetitia; Baurand, Amandine; Petit, Estelle; Schaefer, Elise; Poirsier, Céline; Piard, Juliette; Patay, Léa; Garde, Aurore; Bournez, Marie; Bertolone, Geoffrey; Kastner, Claire; Tempé, Laurine; El Chehadeh, Salima; Spodenkiewick, Marta; Lissy, Lola; Doco-Fenzy, Martine; Cabrol, Christelle; Trouvé, Chloé; Brischoux, Elise Boucher; Cloteau, Mélanie; Burtin, Alexia; Renaud, Mathilde; Riviere, Axelle; Thomas, Quentin; De Souza, Clément Simao; Sawka, Caroline; Racine, Caroline; Robert, Marion; Gautier, Elodie; Delanne, Julian; Bertaut, Aurélie; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie
In European Journal of Medical Genetics October 2023 66(10)
Academic Journal
Abrantes, Amandine; Aguilera Munoz, Lina; Albouys, Jérémie; Alric, Laurent; Amiot, Xavier; Archambeaud, Isabelle; Audiau, Solène; Bastide, Laetitia; Baudon, Julien; Bellaiche, Guy; Bellon, Serge; Bertrand, Valérie; Bideau, Karine; Billiemaz, Kareen; Billioud, Claire; Bonnefoy, Sabine; Borderon, Corinne; Bournet, Barbara; Breton, Estelle; Brugel, Mathias; Buscail, Louis; Cadiot, Guillaume; Camus, Marine; Causse, Xavier; Chamouard, Patrick; Chaput, Ulriikka; Cholet, Franck; Ciocan, Dragos Marius; Clavel, Christine; Coffin, Benoit; Coimet-Berger, Laura; Creveaux, Isabelle; Culetto, Adrian; Daboussi, Oussama; De Mestier, Louis; Degand, Thibault; D'Engremont, Christelle; Denis, Bernard; Dermine, Solène; Desgrippes, Romain; Drouet D'Aubigny, Augustin; Enaud, Raphaël; Fabre, Alexandre; Gargot, Dany; Gelsi, Eve; Gentilcore, Elena; Gincul, Rodica; Ginglinger-Favre, Emmanuelle; Giovannini, Marc; Gomercic, Cécile; Gondran, Hannah; Grainville, Thomas; Grandval, Philippe; Grasset, Denis; Grimaldi, Stéphane; Grimbert, Sylvie; Hagege, Hervé; Heissat, Sophie; Hentic, Olivia; Herber-Mayne, Anne; Hervouet, Marc; Hoibian, Solene; Jacques, Jérémie; Jais, Bénédicte; Kaassis, Mehdi; Koch, Stéphane; Lacaze, Elodie; Lacroute, Joël; Lamireau, Thierry; Laurent, Lucie; Le Guillou, Xavier; Le Rhun, Marc; Leblanc, Sarah; Levy, Philippe; Lievre, Astrid; Lorenzo, Diane; Maire, Frédérique; Marcel, Kévin; Matias, Clément; Mauillon, Jacques; Morgant, Stéphanie; Moussata, Driffa; Muller, Nelly; Nambot, Sophie; Napoleon, Bertrand; Olivier, Anne; Pagenault, Maël; Pelletier, Anne-laure; Pennec, Olivier; Pinard, Fabien; Pioche, Mathieu; Prost, Bénédicte; Queneherve, Lucille; Rebours, Vinciane; Reboux, Noemi; Rekik, Samia; Riachi, Ghassan; Rohmer, Barbara; Roquelaure, Bertrand; Rosa Hezode, Isabelle; Rostain, Florian; Saurin, Jean-Christophe; Servais, Laure; Stan-Iuga, Roxana; Subtil, Clément; Texier, Charles; Thomassin, Lucie; Tougeron, David; Tsakiris, Laurent; Valats, Jean-Christophe; Vuitton, Lucine; Wallenhorst, Timothée; Wangerme, Marc; Zanaldi, Hélène; Zerbib, Frank; Bai, Chen-Guang; Bian, Yun; Cai, Zhen-Zhai; Chang, Xiao-Yan; Chen, Guo-Dong; Cheng, Li; Chen, Yu; Guo, Jin-Tao; Guo, Tao; Han, Jun-Ling; He, Chao-Hui; Hu, Liang-Hao; Huang, Hao-Jie; Huang, Li; Huang, Li-Ya; Huang, Si-Lin; Huang, Wei; Jiang, Fei; Jiang, Hui; Lu, Feng-Chun; Lu, Guo-Tao; Lu, Zi-Peng; Li, Hui-Ping; Li, Jing; Li, Le; Li, Qiang; Li, Xiao-Yu; Lin, Qing; Lin, Yu-Li; Liu, Gai-Fang; Liu, Jie-Min; Liu, Li-Xin; Liu, Pi; Liu, Yi-Pin; Lu, Dong; Shao, Xiao-Dong; Shao, Zhuo; Song, Xu-Rui; Wang, Lei; Wang, Li-Juan; Wang, Li-Sheng; Wang, Lin; Wang, Wei; Wang, Zheng; Wen, Li; Wu, Xi; Xin, Lei; Xue, Jing; Yang, Hong; Yang, Jian-Feng; Yin, Tao; Zhang, Bei-Ping; Zhang, Guo-Wei; Zhang, Hong; Zhang, Rong-Chun; Zhao, Yi-Jun; Zhou, Si-Si; Zhu, Ke-Xiang; Masson, Emmanuelle; Zou, Wen-Bin; Pu, Na; Génin, Emmanuelle; Wu, Hao; Lin, Jin-Huan; Wang, Yuan-Chen; Li, Zhao-Shen; Cooper, David N.; Férec, Claude; Liao, Zhuan; Chen, Jian-Min
In Pancreatology August 2023 23(5):491-506
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
Jiao, Yue; Truong, Thérèse; Eon-Marchais, Séverine; Mebirouk, Noura; Caputo, Sandrine M.; Dondon, Marie-Gabrielle; Karimi, Mojgan; Le Gal, Dorothée; Beauvallet, Juana; Le Floch, Édith; Dandine-Roulland, Claire; Bacq-Daian, Delphine; Olaso, Robert; Albuisson, Juliette; Audebert-Bellanger, Séverine; Berthet, Pascaline; Bonadona, Valérie; Buecher, Bruno; Caron, Olivier; Cavaillé, Mathias; Chiesa, Jean; Colas, Chrystelle; Collonge-Rame, Marie-Agnès; Coupier, Isabelle; Delnatte, Capucine; De Pauw, Antoine; Dreyfus, Hélène; Fert-Ferrer, Sandra; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Golmard, Lisa; Lasset, Christine; Lejeune-Dumoulin, Sophie; Léoné, Mélanie; Limacher, Jean-Marc; Lortholary, Alain; Luporsi, Élisabeth; Mari, Véronique; Maugard, Christine M.; Mortemousque, Isabelle; Mouret-Fourme, Emmanuelle; Nambot, Sophie; Noguès, Catherine; Popovici, Cornel; Prieur, Fabienne; Pujol, Pascal; Sevenet, Nicolas; Sobol, Hagay; Toulas, Christine; Uhrhammer, Nancy; Vaur, Dominique; Venat, Laurence; Boland-Augé, Anne; Guénel, Pascal; Deleuze, Jean-François; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne
In European Journal of Cancer January 2023 179:76-86
Academic Journal
Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G.; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G.; Scott, Daryl A.; Chan, Katie M.; Rosenfeld, Jill A.; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K.; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andrée; de Sainte Agathe, Jean-Madeleine; Buratti, Julien; Kozlov, Serguei V.; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
In The American Journal of Human Genetics 4 August 2022 109(8):1436-1457
Academic Journal
Rosenhahn, Erik; O’Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E.I.; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M.H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E.X.; Maroofian, Reza; Platzer, Konrad
In The American Journal of Human Genetics 4 August 2022 109(8):1421-1435
Academic Journal
Legrand, Clémentine; Lebrun, Marine; Naïbo, Pierre; Peysselon, Magalie; Prieur, Fabienne; Kientz, Caroline; Desseigne, Françoise; Handallou, Sandrine; Rey, Jean-Marc; Nambot, Sophie; Goussot, Vincent; Hamzaoui, Nadim; Wang, Qing
In European Journal of Medical Genetics February 2022 65(2)
Academic Journal
Nicolas-Martinez, Emmylou C.; Robinson, Olivia; Pflueger, Christian; Gardner, Alison; Corbett, Mark A.; Ritchie, Tarin; Kroes, Thessa; van Eyk, Clare L.; Scheffer, Ingrid E.; Hildebrand, Michael S.; Barnier, Jean-Vianney; Rousseau, Véronique; Genevieve, David; Haushalter, Virginie; Piton, Amélie; Denommé-Pichon, Anne-Sophie; Bruel, Ange-Line; Nambot, Sophie; Isidor, Bertrand; Grigg, John
Academic Journal
Thomas, Quentin; Morgant, Marie-Catherine; Nambot, Sophie; Thauvin-Robinet, Christel; Giroud, Maurice
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