학술논문
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'학술논문'
에서 검색결과 466건 | 목록
1~20
Academic Journal
Gines, Macarena Moronta; Wessels, Marja W.; Casa, Valentina; van Staveren, Thomas; Hof, Amber; Chung, Wendy K.; Willems, Marjolaine; Sandestig, Anna; Huening, Irina; Turnpenny, Peter; Lefebvre, Mathilde; Parenti, Ilaria; Kaiser, Frank J.; Demmers, Jeroen; van Ijcken, Wilfred F. J.; Wendt, Kerstin S.
iScience. 28(12)
Academic Journal
Trigui, Melek; Pallares-Ruiz, Nathalie; Geneviève, David; Amouroux, Cyril; Edouard, Thomas; Sigaudy, Sabine; Willems, Marjolaine; Barat-Houari, Mouna
European Journal of Human Genetics. 33(12):1647-1654
Academic Journal
Villy, Marie-Charlotte; Drouet, Youenn; Larcher, Lise; Vial, Yoann; Dauriat, Benjamin; Veyrune, Léa; Fenwarth, Laurène; Auboiroux, Marie-Mathilde; Freiman, Lucie; Nambot, Sophie; Patay, Léa; Willems, Marjolaine; Lachaier, Emma; Bonte, Bénédicte; Lebon, Delphine; Lepage, Mathis; Ingster, Olivier; Gachard, Nathalie; Cluzeau, Thomas; Loschi, Michael; Soulier, Jean; Flandrin-Gresta, Pascale; Turlure, Pascal; Duployez, Nicolas; Clappier, Emmanuelle; Stoppa-Lyonnet, Dominique; Lasset, Christine; Colas, Chrystelle; Sebert, Marie
European Journal of Human Genetics. :1-9
Academic Journal
El Chehadeh, Salima; Heide, Solveig; Quélin, Chloé; Rio, Marlène; Margot, Henri; Geneviève, David; Isidor, Bertrand; Goldenberg, Alice; Guégan, Caroline; Lesca, Gaëtan; Willems, Marjolaine; Ormières, Clothilde; Caumes, Roseline; Busa, Tiffany; Bonneau, Dominique; Guerrot, Anne-Marie; Marey, Isabelle; Vera, Gabriella; Marzin, Pauline; Philippe, Anaïs; Garde, Aurore; Coubes, Christine; Vincent, Marie; Michaud, Vincent; Mignot, Cyril; Charles, Perrine; Sigaudy, Sabine; Edery, Patrick; Lacombe, Didier; Boland, Anne; Nowak, Frédérique; Bouctot, Marion; Humbert-Asensio, Marie-Laure; Simon, Alban; Chennen, Kirsley; Sabour, Niki; Delmas, Christelle; Nicolas, Gaël; Saugier-Veber, Pascale; Lecoquierre, François; Cassinari, Kévin; Keren, Boris; Courtin, Thomas; De Sainte Agathe, Jean-Madeleine; Malan, Valérie; Barcia, Giulia; Tran Mau-Them, Frédéric; Safraou, Hana; Philippe, Christophe; Thévenon, Julien; Chatron, Nicolas; Januel, Louis; Piton, Amélie; Haushalter, Virginie; Gérard, Bénédicte; Lejeune, Catherine; Faivre, Laurence; Sanlaville, Damien; Héron, Delphine; Odent, Sylvie; Nitschké, Patrick; Schluth-Bolard, Caroline; Lyonnet, Stanislas; Deleuze, Jean-François; Binquet, Christine; Dollfus, Hélène
Genome Medicine. 17(1)
Academic Journal
Deguet, Anna; Vigue, Marie-Gabrielle; Lozano, Claire; Baleine, Julien; Milesi, Christophe; Sirvent, Anne; Kollen, Laura; Domitien, Léa; Willems, Marjolaine; Donadieu, Jean; Bellané-Chantelot, Christine; Defendi, Federica; El Sissy, Carine; Spraul, Anne; Rosain, Jérémie; Picard, Capucine; Pissarra, Joana; Mollevi, Caroline; Herman, Fanchon; Bustamante, Jacinta; Jeziorski, Eric
Scientific Reports. 15(1)
Academic Journal
Comel, Margot; Saad, Norma; Sil, Debapratim; Apparailly, Florence; Willems, Marjolaine; Djouad, Farida; Andrau, Jean-Christophe; Lozano, Claire; Genevieve, David
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 45(1)
Academic Journal
Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; G, de La Villeon; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Geneviève, David; Cavé, Hélène; Willems, Marjolaine
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Vegas, Nancy; Rio, Marlène; Adnot, Pauline; Soupre, Véronique; Petit, Florence; Ghoumid, Jamal; Toutain, Annick; Dieterich, Klaus; Marey, Isabelle; Gilbert-Dussardier, Brigitte; Le Guyader, Gwenaël; Francannet, Christine; Schaefer, Elise; Perrin, Laurence; Nizon, Mathilde; Beneteau, Claire; Genevieve, David; Willems, Marjolaine; Faivre, Laurence; Grimaldi, Marianne; Melki, Judith; Stoeva, Radka; Putoux, Audrey; Pons, Linda; Benistan, Karelle; Amiel, Jeanne; Abadie, Véronique
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Comel, Margot; Barat-Houari, Mouna; Alkar, Fanny; Amouroux, Cyril; Prodhomme, Olivier; Ruiz, Nathalie; Rondeau, Sophie; Wells, Constance F.; Pers, Yves-Marie; Geneviève, David; Willems, Marjolaine
Diagnostics. December, 2025, Vol. 15 Issue 24
Academic Journal
Jeanne, Médéric; Ronce, Nathalie; Remizé, Solène; Arpin, Stéphanie; Baujat, Geneviève; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clémence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quélin, Chloé; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andrée; Plaisancié, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marçais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michèle; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlène; Cormier-Daire, Valérie; Toutain, Annick
Journal of Medical Genetics. 62:258-267
Academic Journal
Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
Academic Journal
Gong, Maolei; Li, Jiayi; Qin, Zailong; Machado Bressan Wilke, Matheus Vernet; Liu, Yijun; Li, Qian; Liu, Haoran; Liang, Chen; Morales-Rosado, Joel; Cohen, Ana S.A.; Hughes, Susan; Sullivan, Bonnie; Waddell, Valerie; van den Boogaard, Marie-José; van Jaarsveld, Richard; van Binsbergen, Ellen; van Gassen, Koen; Wang, Tianyun; Hiatt, Susan; Amaral, Michelle; Kelley, Whitley; Zhao, Jianbo; Feng, Weixing; Ren, Changhong; Yu, Yazhen; Boczek, Nicole; Ferber, Matthew; Lahner, Carrie; Elliott, Sherr; Ruan, Yiyan; Mignot, Cyril; Keren, Boris; Xie, Hua; Wang, Xiaoyan; Popp, Bernt; Zweier, Christiane; Piard, Juliette; Coubes, Christine; Mau-Them, Frederic Tran; Safraou, Hana; Innes, A. Micheil; Gauthier, Julie; Michaud, Jacques; Koboldt, Daniel; Sylvie, Odent; Willems, Marjolaine; Tan, Wen-Hann; Cogne, Benjamin; Rieubland, Claudine; Braun, Dominique; Mclean, Scott Douglas; Platzer, Konrad; Zacher, Pia; Oppermann, Henry; Evenepoel, Lucie; Blanc, Pierre; El Khattabi, Laïla; Haque, Neshatul; Dsouza, Nikita; Zimmermann, Michael; Urrutia, Raul; Klee, Eric; Shen, Yiping; Du, Hongzhen; Rappaport, Leonard; Liu, Chang-Mei; Chen, Xiaoli
Am J Hum Genet
Academic Journal
Seaby, Eleanor; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D’arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco; Koboldt, Daniel; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi; O’donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril; Ennis, Sarah
Brain
Academic Journal
Pauline Ober; Christelle Lenoir; Arnaud Maillard; Marie-Gabrielle Vigue; Marjolaine Willems; Sandrine Baron-Joly; Carole E. Aubert; Eva Maria Tinner; Nathalie Lambert; Iben El Missaoui; Frédéric Parisot; Antoine Fayand; Yoann Seeleuthner; Sylvain Hanein; Tom Le Voyer; Martin Broly; Guilaine Boursier; Jean-Laurent Casanova; Peng Zhang; Jana Pachlopnik Schmid; Sylvain Latour; Jérémie Rosain
Journal of Human Immunity, Vol 2, Iss 1, Pp - (2025)
Academic Journal
Thomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stéphane; Leheup, Bruno; Geneviève, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylène; Becker, Aurélie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaëlle; Devillard, Françoise; Schaefer, Élise; Baer, Sarah; Piton, Amélie; Gérard, Bénédicte; Vincent, Marie; Nizon, Mathilde; Cogné, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaëtan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frédéric; Alessandri, Jean-Luc; Lebrun, Marine; Quélin, Chloé; Odent, Sylvie; Dubourg, Christèle; David, Véronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Élise; Afenjar, Alexandra; Julia, Sophie; Bieth, Éric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, François; Nicolas, Gaël; Charbonnier, Camille; de Saint Martin, Anne; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valérie; Oussalah, Abderrahim; Bossenmeyer-Pourié, Carine; Lambert, Laëtitia; Bonnet, Céline
Journal of Medical Genetics. 61:878-885
Academic Journal
Serey-Gaut, Margaux; Balogoun, Ralyath; Jonard, Laurence; Lina-Granade, Geneviève; Touraine, Renaud; Willems, Marjolaine; Hepp, Nicola; Rendtorff, Nanna Dahl; Bertelsen, Mette; Loundon, Natalie; Couloigner, Vincent; Lemiere, Isabelle; de Oliveira, Judite; Romana, Serge; Porteret, Camille; Blanc, Pierre; Mansard, Luke; Marlin, Sandrine; Roux, Anne-Françoise; Pingault, Véronique
Human Genetics. :1-9
Academic Journal
Bessis, Didier; Poujade, Laura; Cossée, Mireille; Boursier, Guilaine; Barat-Houari, Mouna; Tharreau, Mylene; Durand, Luc; Aguilar, Simon Cabello; Solassol, Jérome; Willems, Marjolaine; Vendrell, Julie
British Journal of Dermatology. 191:641-644
Academic Journal
Courdier, Cécile; Michaud, Vincent; Diallo, Modibo; Plaisant, Claudio; Lasseaux, Eulalie; Helot, Isabelle; Philippe, Elodie; Vrielynck, Els; Willems, Marjolaine; Arveiler, Benoit
European Journal of Human Genetics. :1-4
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle; Rooney, Kathleen; Levy, Michael; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Maas, Saskia M.; Vissers, Lisenka; de Vries, Bert; Pfundt, Rolph; Elting, Mariet; van Hagen, Johanna; 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; Geneviève, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles; Õunap, Katrin; Hoffer, Mariette; Nezarati, Marjan; van den Boogaard, Marie-José; Tedder, Matthew; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; Mccann, Emma; Mroczkowski, Henry; Jansen, Sandra; Donker Kaat, Laura; Duijkers, Floor; Stuurman, Kyra E.; Mannens, Marcel M.A.M; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M
Hum Genet
Human Genetics, 143, 6, pp. 761-773
Human genetics
Human Genetics, 143, 6, pp. 761-773
Human genetics
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1144-1149
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