학술논문
'학술논문'
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1~10
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; 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; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariëtte J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-José H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Human Genetics. :1-13
Academic Journal
Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian; Guerrini, Renzo; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela
American Journal of Human Genetics. 110(8)
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
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
Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A; VanHasselt, Peter M; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Undiagnosed Diseases Network; Schoch, Kelly; Sullivan, Jennifer A; Pinto E Vairo, Filippo; Pichurin, Pavel N; Ewing, Sarah A; Barnett, Sarah S; Klee, Eric W; Perry, M Scott; Koenig, Mary Kay; Keegan, Catherine E; Schuette, Jane L; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D; Rosenfeld, Jill A; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E; Steeves, Marcie A; Hollander, Nicolette den; Hoffer, Mariëtte JV; Reijnders, Margot RF; Demirdas, Serwet; Koboldt, Daniel C; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E; Shieh, Christine; Sanchez-Lara, Pedro A; Graham, John M; Tezcan, Kamer; Schaefer, GB; Danylchuk, Noelle R; Asamoah, Alexander; Jackson, Kelly E; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A; Kleefstra, Tjitske
Biological psychiatry. 87(2)
Academic Journal
Guo, Hui; Bettella, Elisa; Marcogliese, Paul; Zhao, Rongjuan; Andrews, Jonathan; Nowakowski, Tomasz; Gillentine, Madelyn; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein; van Bon, Bregje; Rinne, Tuula; Stevens, Servi; Kleefstra, Tjitske; Brunner, Han; Yntema, Helger; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta; Erwin, Deanna; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather; Muir, Alison; Scheffer, Ingrid; Regan, Brigid; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan; Waisfisz, Quinten; Bijlsma, Emilia; Hoffer, Mariëtte; Ruivenkamp, Claudia; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill; Bernier, Raphael; Wangler, Michael; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander; Bellen, Hugo; Murgia, Alessandra; Eichler, Evan; Herman, Kristin
Nature Communications. 10(1)
Academic Journal
Eggenhuizen, Geerke M.; Go, Attie T. J. I.; Sauter, Zoe; Hoffer, Mariette J. V.; Haak, Monique C.; Geeven, Geert; Diderich, Karin E. M.; Joosten, Marieke; van den Born, Myrthe; Srebniak, Malgorzata I.; Van Opstal, Diane
Academic Journal
van Prooyen Schuurman, Lisanne; Sistermans, Erik A.; Van Opstal, Diane; Henneman, Lidewij; Bekker, Mireille N.; Bax, Caroline J.; Pieters, Mijntje J.; Bouman, Katelijne; de Munnik, Sonja; den Hollander, Nicolette S.; Diderich, Karin E.M.; Faas, Brigitte H.W.; Feenstra, Ilse; Go, Attie T.J.I.; Hoffer, Mariëtte J.V.; Joosten, Marieke; Komdeur, Fenne L.; Lichtenbelt, Klaske D.; Lombardi, Maria P.; Polak, Marike G.; Jehee, Fernanda S.; Schuring-Blom, Heleen; Stevens, Servi J.C.; Srebniak, Malgorzata I.; Suijkerbuijk, Ron F.; Tan-Sindhunata, Gita M.; van der Meij, Karuna R.M.; van Maarle, Merel C.; Vernimmen, Vivian; van Zelderen-Bhola, Shama L.; van Ravesteyn, Nicolien T.; Knapen, Maarten F.C.M.; Macville, Merryn V.E.; Galjaard, Robert-Jan H.
In The American Journal of Human Genetics 2 June 2022 109(6):1140-1152
Academic Journal
Kloth, Katja; Lozic, Bernarda; Tagoe, Julia; Hoffer, Mariëtte J. V.; Van der Ven, Amelie; Thiele, Holger; Altmüller, Janine; Kubisch, Christian; Au, Ping Yee Billie; Denecke, Jonas; Bijlsma, Emilia K.; Lessel, Davor
neurogenetics. 22(4):263-269
Academic Journal
Sewani, Soha; Azamian, Mahshid S.; Mendelsohn, Bryce A.; Mau-Them, Frederic Tran; Reda, Manon; Nambot, Sophie; Isidor, Bertrand; van der Smagt, Jasper J.; Shen, Joseph J.; Shillington, Amelle; White, Lori; Elloumi, Houda Zghal; Baker II, Peter R.; Svihovec, Shayna; Brown, Kathleen; Koopman-Keemink, Yvonne; Hoffer, Mariette J. V.; Lakeman, Inge M. M.; Brischoux-Boucher, Elise; Kinali, Maria; Zhao, Xiaonan; Lalani, Seema R.; Scott, Daryl A.
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