학술논문
'학술논문'
에서 검색결과 66건 | 목록
1~10
Academic Journal
Colbert, Brett M.; Lanting, Cris; Smeal, Molly; Blanton, Susan; Dykxhoorn, Derek M.; Tang, Pei-Ciao; Getchell, Richard L.; Velde, Hedwig; Fehrmann, Mirthe; Thorpe, Ryan; Chapagain, Prem; Elkhaligy, Heidy; Kremer, Hannie; Yntema, Helger; Haer-Wigman, Lonneke; Redfield, Shelby; Sun, Tieqi; Bruijn, Saskia; Plomp, Astrid; Goderie, Thade; van de Kamp, Jiddeke; Free, Rolien H.; Wassink-Ruiter, Jolien Klein; Widdershoven, Josine; Vanhoutte, Els; Rotteveel, Liselotte; Kriek, Marjolein; van Dooren, Marieke; Hoefsloot, Lies; de Gier, Heriette H. W.; Aten, E.; Widdershoven, J. C. C.; Hof, J. R.; Hellingman, K.; Vernimmen, V.; Kremer, H.; Pennings, R. J. E.; Feenstra, I.; Lanting, C. P.; Yntema, H. G.; Cals, F. L. J.; Haer-Wigman, L.; Free, R. H.; Wassink-Ruiter, J. S. Klein; Smit, A. L.; van den Boogaard, M. J.; Lachmeier, A. M. A.; Smits, J. J.; Ebbens, F. A.; Maas, S. M.; Plomp, A.; Goderie, T. P. M.; Merkus, P.; van de Kamp, J.; Schaefer, Amanda; Kolbe, Diana; Azaiez, Hela; Rabie, Grace; Aburayyan, Armal; Kawas, Mariana; Kanaan, Moien; Holder, Jourdan; Usami, Shin-ichi; Chen, Zhengyi; Dai, Pu; Holt, Jeffrey; Nelson, Rick; Choi, Byung Yoon; Shearer, Eliot; Smith, Richard J. H.; Pennings, Ronald; Liu, Xue Zhong; DOOFNL Consortium
Academic Journal
Fehrmann, M. L. A.; Huinck, W. J.; Thijssen, M. E. G.; Haer-Wigman, L.; Yntema, H. G.; Rotteveel, L. J. C.; Widdershoven, J. C. C.; Goderie, T.; van Dooren, M. F.; Hoefsloot, E. H.; van der Schroeff, M. P.; Mylanus, E. A. M.; Kant, S. G.; de Gier, H. H. W.; Ropers, F. G.; Kriek, M.; Aten, E.; Hof, J. R.; Hellingman, K.; Vernimmen, V.; Kremer, H.; Pennings, R. J. E.; Feenstra, I.; Lanting, C. P.; Cals, F. L. J.; Free, R. H.; Wassink-Ruiter, J. S. Klein; Smit, A. L.; van den Boogaard, M. J.; Lachmeier, A. M. A.; Smits, J. J.; Ebbens, F. A.; Maas, S. M.; Plomp, A.; Goderie, T. P. M.; Merkus, P.; van de Kamp, J.
Journal of Otolaryngology - Head & Neck Surgery. December 15, 2023, Vol. 52 Issue 1
Academic Journal
Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Silfhout, A. T. Vulto-van; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(4):645-652
Academic Journal
Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Wassink-Ruiter, Jolien S Klein; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; Harrell, Tanya M; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Staples, Jeffrey C; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian
American Journal of Human Genetics. 96(3)
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
Smits, Jeroen J.; Oostrik, Jaap; Beynon, Andy J.; Kant, Sarina G.; de Koning Gans, Pia A. M.; Rotteveel, Liselotte J. C.; Klein Wassink-Ruiter, Jolien S.
Human Genetics. January 2019, Vol. 138 Issue 1, p61, 12 p.
Academic Journal
Jansen, Sandra; van der Werf, Ilse M.; Innes, A. Micheil; Afenjar, Alexandra; Agrawal, Pankaj B.; Anderson, Ilse J.; Atwal, Paldeep S.; van Binsbergen, Ellen; van den Boogaard, Marie-José; Castiglia, Lucia; Coban-Akdemir, Zeynep H.; van Dijck, Anke; Doummar, Diane; van Eerde, Albertien M.; van Essen, Anthonie J.; van Gassen, Koen L.; Guillen Sacoto, Maria J.; van Haelst, Mieke M.; Iossifov, Ivan; Jackson, Jessica L.; Judd, Elizabeth; Kaiwar, Charu; Keren, Boris; Klee, Eric W.; Klein Wassink-Ruiter, Jolien S.; Meuwissen, Marije E.; Monaghan, Kristin G.; de Munnik, Sonja A.; Nava, Caroline; Ockeloen, Charlotte W.; Pettinato, Rosa; Racher, Hilary; Rinne, Tuula; Romano, Corrado; Sanders, Victoria R.; Schnur, Rhonda E.; Smeets, Eric J.; Stegmann, Alexander P. A.; Stray-Pedersen, Asbjørg; Sweetser, David A.; Terhal, Paulien A.; Tveten, Kristian; VanNoy, Grace E.; de Vries, Petra F.; Waxler, Jessica L.; Willing, Marcia; Pfundt, Rolph; Veltman, Joris A.; Kooy, R. Frank; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.
European Journal of Human Genetics. 27(5):738-746
Academic Journal
Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima; UCLA Clinical Genomics Ctr
Academic Journal
Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M.
Academic Journal
Stevens, Servi J.C.; van Ravenswaaij-Arts, Conny M.A.; Janssen, Jannie W.H.; Klein Wassink-Ruiter, Jolien S.; van Essen, Anthonie J.; Dijkhuizen, Trijnie; van Rheenen, Jeroen; Heuts-Vijgen, Regina; Stegmann, Alexander P.A.; Smeets, Eric E.J.G.L.; Engelen, John J.M.
American Journal Of Medical Genetics - A. Nov 01, 2011 155(11):2739-2745
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