학술논문
'학술논문'
에서 검색결과 161건 | 목록
1~10
Academic Journal
Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouvé, Chloé; Amiel, Jeanne; Attié-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; McConkey, Haley; Michaud, Vincent; Nicolas, Gaël; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlène; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylène; Mau-Them, Frédéric Tran; van der Laan, Liselot; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kévin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Geneviève, David
In Genetics in Medicine January 2024 26(1)
Academic Journal
Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill V.; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K.G.; Thiffault, Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Østergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; Hrabě de Angelis, Martin; Hölter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R.
In The American Journal of Human Genetics 3 August 2023 110(8):1394-1413
Academic Journal
Perge, Kevin; Capel, Emilie; Villanueva, Carine; Gautheron, Jérémie; Diallo, Safiatou; Auclair, Martine; Rondeau, Sophie; Morichon, Romain; Brioude, Frédéric; Jéru, Isabelle; Rossi, Massimiliamo; Nicolino, Marc; Vigouroux, Corinne
Academic Journal
Marzin, Pauline; Rondeau, Sophie; Alessandri, Jean-Luc; Dieterich, Klaus; le Goff, Carine; Mahaut, Clémentine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van-Gils, Julien; Francannet, Christine; Robert, Matthieu P.; Jais, Jean-Philippe; Huber, Céline; Cormier-Daire, Valerie
Journal of Medical Genetics; Feb2024, Vol. 61 Issue 2, p109-116, 15p
Academic Journal
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics. 32(2):190-199
Academic Journal
Yang, David Dawei; Rio, Marlene; Michot, Caroline; Boddaert, Nathalie; Yacoub, Wael; Garcelon, Nicolas; Thierry, Briac; Bonnet, Damien; Rondeau, Sophie; Herve, Dominique; Guey, Stephanie; Angoulvant, Francois; Cormier-Daire, Valerie
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels‐Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean‐Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange‐Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye‐Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch‐Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne‐Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M.; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier‐Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin‐Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean‐Louis; Geneviève, David
Molecular Genetics & Genomic Medicine. January, 2024, Vol. 12 Issue 1
Academic Journal
Rubinato, Elisa; Rondeau, Sophie; Giuliano, Fabienne; Kossorotoff, Manoelle; Parodi, Marine; Gherbi, Souad; Steffan, Julie; Jonard, Laurence; Marlin, Sandrine
In European Journal of Medical Genetics March 2020 63(3)
Academic Journal
Resende, Kemelly Karolliny Moreira; Riou, Margot Charlotte; Yamaguti, Paulo Marcio; Fournier, Benjamin; Rondeau, Sophie; Pacot, Laurence; Berdal, Ariane; Felizardo, Rufino; Mazzeu, Juliana Forte; Cormier-Daire, Valérie; Gaucher, Céline; Acevedo, Ana Carolina; de La Dure-Molla, Muriel
European Journal of Human Genetics. 31(11):1337-1341
Academic Journal
Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stephanie; Barcia, Giulia; Bendova, Sarka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solene; Daire, Valerie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andree; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Melanie; Frenkiel, Helene; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Benedicte; Germanaud, David; Goujon, Louise; Gouronc, Aurelie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicova, Marketa; Heron, Delphine; Isidor, Bertrand; Marcais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, Francois; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M.; Nicolas, Gael; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amelie; Pollazzon, Marzia; Prchalova, Darina; Putoux, Audrey; Rio, Marlene; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlckova, Marketa; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinova, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Genevieve, David
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