학술논문
'학술논문'
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1~10
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
Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber; Wentzensen, Ingrid; Crunk, Amy; Nicholls, Robert; Deignan, Joshua; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Østern, Rune; Houge, Gunnar; Hafström, Maria; Fassi, Emily; Houlden, Henry; Klein Wassink-Ruiter, Jolien; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory; Martinez, Jose; Finnila, Candice; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han; Lindhout, Dick; Au, Margaret; Graham, John; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques; Lessard, Julie; Ernst, Carl; Campeau, Philippe; Herman, Kristin
American Journal of Human Genetics. 104(5)
Academic Journal
Journal of Genetic Counseling; Apr2021, Vol. 30 Issue 2, p588-597, 10p
Academic Journal
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; Gassen, Koen L. I. van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B. A. de; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Jr., Julian L.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(6):1028-1040
Academic Journal
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Dec 01, 2017 175(4):407-416
Academic Journal
Brereton, Emily; Fassi, Emily; Araujo, Gabriel C.; Dodd, Jonathan; Telegrafi, Aida; Pathak, Sheel J.; Shinawi, Marwan
Academic Journal
Academic Journal
Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A.; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R.; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L.; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J. Guillen; Douglas, Ganka; Alexander, Nora; Buckley, Michael F.; Mark, Paul R.; Ades, Lesley C.; Sandaradura, Sarah A.; Lupski, James R.; Roscioli, Tony; Agrawal, Pankaj B.; Kline, Antonie D.; Wang, Kai; Timmers, H. T. Marc; Lyon, Gholson J.; Deciphering Dev Disorders Study
Academic Journal
Konrad, Enrico D. H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C. J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja, I; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane; DDD Study
Academic Journal
Salpietro, Vincenzo; Dixon, Christine L.; Guo, Hui; Bello, Oscar D.; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Mannikko, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G.; Santiago-Sim, Teresa; Person, Richard E.; Cho, Megan T.; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A.; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M.; Jaeger, Bregje; Schneider, Amy L.; Boysen, Katja; Muir, Alison M.; Myers, Candace T.; Gavrilova, Ralitza H.; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W.; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Penas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N.; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C.; Scheffer, Ingrid E.; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E.; Eichler, Evan E.; Kullmann, Dimitri M.; Houlden, Henry; Raspall-Chaure, Miquel; Hanna, Michael G.; Bugiardini, Enrico; Hostettler, Isabel; O'Callaghan, Benjamin; Khan, Alaa; Cortese, Andrea; O'Connor, Emer; Yau, Wai Y.; Bourinaris, Thomas; Kaiyrzhanov, Rauan; Chelban, Viorica; Madej, Monika; Diana, Maria C.; Vari, Maria S.; Pedemonte, Marina; Bruno, Claudio; Balagura, Ganna; Scala, Marcello; Fiorillo, Chiara; Nobili, Lino; Malintan, Nancy T.; Zanetti, Maria N.; Krishnakumar, Shyam S.; Lignani, Gabriele; Jepson, James E. C.; Broda, Paolo; Baldassari, Simona; Rossi, Pia; Fruscione, Floriana; Madia, Francesca; Traverso, Monica; De-Marco, Patrizia; Perez-Duenas, Belen; Munell, Francina; Kriouile, Yamna; El-Khorassani, Mohamed; Karashova, Blagovesta; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Van-Maldergem, Lionel; Nachbauer, Wolfgang; Boesch, Sylvia; Gagliano, Antonella; Amadori, Elisabetta; Goraya, Jatinder S.; Sultan, Tipu; Kirmani, Salman; Ibrahim, Shahnaz; Jan, Farida; Mine, Jun; Banu, Selina; Veggiotti, Pierangelo; Zuccotti, Gian, V; Ferrari, Michel D.; Van Den Maagdenberg, Arn M. J.; Verrotti, Alberto; Marseglia, Gian L.; Savasta, Salvatore; Soler, Miguel A.; Scuderi, Carmela; Borgione, Eugenia; Chimenz, Roberto; Gitto, Eloisa; Dipasquale, Valeria; Sallemi, Alessia; Fusco, Monica; Cuppari, Caterina; Cutrupi, Maria C.; Ruggieri, Martino; Cama, Armando; Capra, Valeria; Mencacci, Niccolo E.; Boles, Richard; Gupta, Neerja; Kabra, Madhulika; Papacostas, Savvas; Zamba-Papanicolaou, Eleni; Dardiotis, Efthymios; Maqbool, Shazia; Rana, Nuzhat; Atawneh, Osama; Lim, Shen Y.; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Coviello, Domenico A.; Dauvilliers, Yves A.; AlKhawaja, Issam; AlKhawaja, Mariam; Al-Mutairi, Fuad; Stojkovic, Tanya; Ferrucci, Veronica; Zollo, Massimo; Alkuraya, Fowzan S.; Kinali, Maria; Sherifa, Hamed; Benrhouma, Hanene; Turki, Ilhem B. Y.; Tazir, Meriem; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Zaki, Maha S.; Triki, Chahnez C.; Benfenati, Fabio; Gustincich, Stefano; Kara, Majdi; Belcastro, Vincenzo; Specchio, Nicola; Capovilla, Giuseppe; Karimiani, Ehsan G.; Salih, Ahmed M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Oshinaike, Olajumoke O.; Oguntunde, Olapeju; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Senkevich, Konstantin; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Rossi, Salvatore; Silvestri, Gabriella; Haridy, Nourelhoda; Ramenghi, Luca A.; Xiromerisiou, Georgia; David, Emanuele; Aguennouz, Mhammed; Fidani, Liana; Spanaki, Cleanthe; Tucci, Arianna; SYNAPS Study Grp
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