학술논문
'학술논문'
에서 검색결과 1,371건 | 목록
170~180
Academic Journal
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna
Academic Journal
de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske
Academic Journal
Chouery, Eliane; Guissart, Claire; Mégarbané, Hala; Aral, Bernard; Nassif, Charbel; Thauvin-Robinet, Christel; Faivre, Laurence; Mégarbané, André
In European Journal of Medical Genetics December 2013 56(12):674-677
Academic Journal
Academic Journal
Michot, Caroline; Corsini, Carole; Sanlaville, Damien; Baumann, Clarisse; Toutain, Annick; Philip, Nicole; Busa, Tiffany; Holder, Muriel; Faivre, Laurence; Odent, Sylvie; Delrue, Marie-Ange; Till, Marianne; Jacquemont, Marie-Line; Cordier, Marie-Pierre; Goldenberg, Alice; Sanchez, Elodie; Alix, Eudeline; Poisson, Sylvain; Kayirangwa, Honorine; Lacombe, Didier; Gilbert-Dussardier, Brigitte; Pelet, Anna; Roume, Joëlle; Jacquette, Aurélia; Isidor, Bertrand; Giuliano, Fabienne; Burglen, Lydie; Fradin, Mélanie; Schaefer, Elise; Alembick, Yves; Doray, Bérénice; Moncla, Anne; Héron, Delphine; Willems, Marjolaine; Pinson, Lucile; Le Quan Sang, Kim Hanh; Le Merrer, Martine; Cormier-Daire, Valérie; Sarda, Pierre; Amiel, Jeanne; Lyonnet, Stanislas; Geneviève, David
In European Journal of Medical Genetics October 2013 56(10):556-560
Academic Journal
Mirzaa, Ghayda M; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V; Roberts, Nicola; Johnson, Colin A; Singh, Shawn; Kholmanskikh, Stanislav S; Adams, Carissa; Hodge, Rebecca D; Hevner, Robert F; Bonthron, David T; Braun, Kees PJ; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W; Mancini, Grazia MS; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycott, Kym M; Pilz, Daniela T; Ross, M Elizabeth; Dobyns, William B; Sheridan, Eamonn G
Nature Genetics. 46(5)
Periodical
Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E.R.; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G.; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K.; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A.; Faivre, Laurence; Vabres, Pierre
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1484-1491, 8p
Periodical
Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M.A.; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B.A.; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Õunap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Blok, Lot Snijders; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G.; Wevers, Marijke R.; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1474-1483, 10p
Academic Journal
Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Bjorn; Monaghan, Kristin; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denomme-Pichon, Anne-Sophie; Vitobllo, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Vila, Elisabeth Gabau; Mak, Bryan C.; Martinez-Agosto, Julian A.; Gorin, Michael B.; Duz, Bugrahan; Bayram, Yavuz; Fonseca, Claudia M. B. Carvalho; Vengoechea, Jaime; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M.; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, MariaSavina; Capra, Valeria; Costain, Gregory; Nagata, Koh-ichi; Undiagnosed Disease Network; Telethon Undiagnosed Dis Program
Academic Journal
Bourgon, Nicolas; Garde, Aurore; Them, Frederic Tran Mau; Duffourd, Yannis; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Thauvin-Robinet, Christel
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