학술논문
'학술논문'
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1~10
Academic Journal
DeMille, D; McDonald, J; Bernabeu, C; Racher, H; Olivieri, C; Cantarini, C; Sbalchiero, A; Thompson, BA; Jovine, L; Shovlin, CL; Dupuis-Girod, S; Lesca, G; Tusseau, M; Ganguly, A; Kasthuri, RS; Jessen, J; Massink, MPG; Ichikawa, S; Bayrak-Toydemir, P
HUMAN MUTATION. 2024
Academic Journal
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Academic Journal
Christy W. LaFlamme; Cassandra Rastin; Soham Sengupta; Helen E. Pennington; Sophie J. Russ-Hall; Amy L. Schneider; Emily S. Bonkowski; Edith P. Almanza Fuerte; Talia J. Allan; Miranda Perez-Galey Zalusky; Joy Goffena; Sophia B. Gibson; Denis M. Nyaga; Nico Lieffering; Malavika Hebbar; Emily V. Walker; Daniel Darnell; Scott R. Olsen; Pandurang Kolekar; Mohamed Nadhir Djekidel; Wojciech Rosikiewicz; Haley McConkey; Jennifer Kerkhof; Michael A. Levy; Raissa Relator; Dorit Lev; Tally Lerman-Sagie; Kristen L. Park; Marielle Alders; Gerarda Cappuccio; Nicolas Chatron; Leigh Demain; David Genevieve; Gaetan Lesca; Tony Roscioli; Damien Sanlaville; Matthew L. Tedder; Sachin Gupta; Elizabeth A. Jones; Monika Weisz-Hubshman; Shamika Ketkar; Hongzheng Dai; Kim C. Worley; Jill A. Rosenfeld; Hsiao-Tuan Chao; Undiagnosed Diseases Network; Geoffrey Neale; Gemma L. Carvill; University of Washington Center for Rare Disease Research; Zhaoming Wang; Samuel F. Berkovic; Lynette G. Sadleir; Danny E. Miller; Ingrid E. Scheffer; Bekim Sadikovic; Heather C. Mefford
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Academic Journal
Tusseau, M.; Eyries, M.; Chatron, N.; Coulet, F.; Guichet, A.; Colin, E.; Demeer, B.; Maillard, H.; Thevenon, J.; Lavigne, C.; Saillour, V.; Paris, C.; De Sainte Agathe, J.M.; Pujalte, M.; Guilhem, A.; Dupuis-Girod, S.; Lesca, G.
In European Journal of Medical Genetics April 2024 68
Academic Journal
Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J; Schnur, Rhonda E; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphné; Nambot, Sophie; Moutton, Sébastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christèle; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J; Masser-Frye, Diane; Bird, Lynne M; Lindstrom, Kristin; Ramsey, Keri M; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H; Klein Wassink-Ruiter, Jolien S; Bijlsma, Emilia; Hoffer, Mariëtte JV; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A; Machol, Keren; Scott, Daryl A; Bacino, Carlos A; Wang, Xia; Clark, Gary D; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H; Akay, Ela; Chang, Richard C; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogné, Benjamin; Kuechler, Alma; Piton, Amélie; Klee, Eric W; Lefebvre, Véronique; Clark, Karl J; Depienne, Christel
Genetics in Medicine. 22(3)
Academic Journal
Tusseau, M.; Eyries, M.; Chatron, N.; Coulet, F.; Guichet, A.; Colin, E.; Demeer, B.; Maillard, H.; Thevenon, J.; Lavigne, C.; Saillour, V.; Paris, C.; De St Agathe, J. M.; Pujalte, M.; Guilhem, A.; Dupuis-Girod, S.; Lesca, G.
Academic Journal
Gokce-Samar, Z.; de Bellescize, J.; Arzimanoglou, A.; Putoux, A.; Chatron, N.; Lesca, G.; Portes, V. des
In European Journal of Medical Genetics December 2022 65(12)
Academic Journal
Franceschini, Nora; Giambartolomei, Claudia; de Vries, Paul S; Finan, Chris; Bis, Joshua C; Huntley, Rachael P; Lovering, Ruth C; Tajuddin, Salman M; Winkler, Thomas W; Graff, Misa; Kavousi, Maryam; Dale, Caroline; Smith, Albert V; Hofer, Edith; van Leeuwen, Elisabeth M; Nolte, Ilja M; Lu, Lingyi; Scholz, Markus; Sargurupremraj, Muralidharan; Pitkänen, Niina; Franzén, Oscar; Joshi, Peter K; Noordam, Raymond; Marioni, Riccardo E; Hwang, Shih-Jen; Musani, Solomon K; Schminke, Ulf; Palmas, Walter; Isaacs, Aaron; Correa, Adolfo; Zonderman, Alan B; Hofman, Albert; Teumer, Alexander; Cox, Amanda J; Uitterlinden, André G; Wong, Andrew; Smit, Andries J; Newman, Anne B; Britton, Annie; Ruusalepp, Arno; Sennblad, Bengt; Hedblad, Bo; Pasaniuc, Bogdan; Penninx, Brenda W; Langefeld, Carl D; Wassel, Christina L; Tzourio, Christophe; Fava, Cristiano; Baldassarre, Damiano; O'Leary, Daniel H; Teupser, Daniel; Kuh, Diana; Tremoli, Elena; Mannarino, Elmo; Grossi, Enzo; Boerwinkle, Eric; Schadt, Eric E; Ingelsson, Erik; Veglia, Fabrizio; Rivadeneira, Fernando; Beutner, Frank; Chauhan, Ganesh; Heiss, Gerardo; Snieder, Harold; Campbell, Harry; Völzke, Henry; Markus, Hugh S; Deary, Ian J; Jukema, J Wouter; de Graaf, Jacqueline; Price, Jacqueline; Pott, Janne; Hopewell, Jemma C; Liang, Jingjing; Thiery, Joachim; Engmann, Jorgen; Gertow, Karl; Rice, Kenneth; Taylor, Kent D; Dhana, Klodian; Kiemeney, Lambertus ALM; Lind, Lars; Raffield, Laura M; Launer, Lenore J; Holdt, Lesca M; Dörr, Marcus; Dichgans, Martin; Traylor, Matthew; Sitzer, Matthias; Kumari, Meena; Kivimaki, Mika; Nalls, Mike A; Melander, Olle; Raitakari, Olli; Franco, Oscar H; Rueda-Ochoa, Oscar L; Roussos, Panos; Whincup, Peter H; Amouyel, Philippe; Giral, Philippe
Nature communications. 9(1)
Academic Journal
Johannesen, Katrine M; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; Martin, Anne Saint; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J Lawrence; Rodan, Lance H; Tan, Wen‐Hann; Bird, Lynne M; Nespeca, Mark; Gleeson, Joseph G; Yoo, Yongjin; Choi, Murim; Chae, Jong‐Hee; Czapansky‐Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S; Schelhaas, Helenius J; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E; Pisani, Laura; Myers, Candace T; Tang, Sha; Tang, Shan; Pal, Deb K; Millichap, John J; Carvill, Gemma L; Helbig, Kathrine L; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C; Møller, Rikke S
Epilepsia. 59(2)
Academic Journal
Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Sacoto, Maria J Guillen; Safina, Nicole P; Dubourg, Christèle; Grote, Lauren; Carré, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Al; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J; Rivier, François; Leboucq, Nicolas; Cogné, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bézieau, Stéphane; Koenig, Michel; Davis, Erica E; Pasquier, Laurent; Küry, Sébastien
American Journal of Human Genetics. 102(5)
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