학술논문
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'학술논문'
에서 검색결과 83건 | 목록
1~20
Academic Journal
Velde, Hedwig M.; Vaseghi-Shanjani, Maryam; Smits, Jeroen J.; Ramakrishnan, Gayatri; Oostrik, Jaap; Wesdorp, Mieke; Astuti, Galuh; Yntema, Helger G.; Hoefsloot, Lies; Lanting, Cris P.; Huynen, Martijn A.; Lehman, Anna; Turvey, Stuart E.; Yntema, H. G.; Widdershoven, J. C. C.; Vernimmen, V.; Smits, J. J.; Smit, A. L.; van der Schroeff, M. P.; Rotteveel, L. J. C.; Ropers, F. G.; Plomp, A.; Pennings, R. J. E.; Merkus, P.; Maas, S. M.; Lanting, C. P.; Lachmeijer, A. M. A.; Kriek, M.; Kremer, H.; Wassink-Ruiter, J. S. Klein; Kant, S. G.; van de Kamp, J.; Hof, J. R.; Hoefsloot, E. H.; Hellingman, K.; Haer-Wigman, L.; Goderie, T. P. M.; de Gier, H. H. W.; Free, R. H.; Feenstra, I.; Ebbens, F. A.; van Dooren, M. F.; Cals, F. L. J.; van den Boogaard, M. J.; Aten, E.; Pennings, Ronald J. E.; Kremer, Hannie
Hum Genet
Human Genetics, 143, 11, pp. 1379-1399
Human Genetics, 143, 11, pp. 1379-1399
Academic Journal
Brett M. Colbert; Cris Lanting; Molly Smeal; Susan Blanton; Derek M. Dykxhoorn; Pei-Ciao Tang; Richard L. Getchell; Hedwig Velde; Mirthe Fehrmann; Ryan Thorpe; Prem Chapagain; Heidy Elkhaligy; Hannie Kremer; Helger Yntema; Lonneke Haer-Wigman; Shelby Redfield; Tieqi Sun; Saskia Bruijn; Astrid Plomp; Thadé Goderie; Jiddeke van de Kamp; Rolien H. Free; Jolien Klein Wassink-Ruiter; Josine Widdershoven; Els Vanhoutte; Liselotte Rotteveel; Marjolein Kriek; Marieke van Dooren; Lies Hoefsloot; Heriette H. W. de Gier; M. F. van Dooren; S. G. Kant; H. H. W. de Gier; E. H. Hoefsloot; M. P. van der Schroeff; L. J. C. Rotteveel; F. G. Ropers; M. Kriek; E. Aten; J. C. C. Widdershoven; J. R. Hof; K. Hellingman; V. Vernimmen; H. Kremer; R. J. E. Pennings; I. Feenstra; C. P. Lanting; H. G. Yntema; F. L. J. Cals; L. Haer-Wigman; R. H. Free; J. S. Klein Wassink-Ruiter; A. L. Smit; M. J. van den Boogaard; A. M. A. Lachmeier; J. J. Smits; F. A. Ebbens; S. M. Maas; A. Plomp; T. P. M. Goderie; P. Merkus; J. van de Kamp; Amanda Schaefer; Diana Kolbe; Hela Azaiez; Grace Rabie; Armal Aburayyan; Mariana Kawas; Moien Kanaan; Jourdan Holder; Shin-ichi Usami; Zhengyi Chen; Pu Dai; Jeffrey Holt; Rick Nelson; Byung Yoon Choi; Eliot Shearer; Richard J. H. Smith; Ronald Pennings; Xue Zhong Liu
Hum Genet
Colbert, B M, Lanting, C, Smeal, M, Blanton,S , Dykxhoorn, D M, Tang, P-C, Getchell, R L, Velde, H, Fehrmann, M, Thorpe, R, Chapagain, P, Elkhaligy, H, Kremer, H, Yntema, H, Haer-Wigman, L, Redfield, S , Sun, T, Bruijn, S , Plomp, A, Goderie, T, van de Kamp, J , Free, R H, Wassink -Ruiter , J K, Widdershoven, J , Vanhoutte, E, Rotteveel, L, Kriek, M, van Dooren, M, Hoefsloot, L, de Gier, H H W, Schaefer, A, Kolbe, D, Azaiez, H, Rabie, G, Aburayyan, A, Kawas, M, Kanaan, M, Holder, J , Usami, S -I, Chen, Z, Dai, P, Holt, J , Nelson, R, Choi, B Y, Shearer, E, Smith, R J H, Pennings, R & Liu, X Z 2024, 'The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss : an international, multi-center, cohort analysis', Human Genetics, vol. 143, no. 5, pp. 721-734. https://doi.org/10.1007/s00439-024-02648-3
Human Genetics, 143, 5, pp. 721-734
Colbert, B M, Lanting, C, Smeal, M, Blanton,
Human Genetics, 143, 5, pp. 721-734
Academic Journal
Jeroen J. Smits; Suzanne E. de Bruijn; Cornelis P. Lanting; Jaap Oostrik; Luke O’Gorman; Tuomo Mantere; M. F. van Dooren; S. G. Kant; H. H. W. de Gier; E. H. Hoefsloot; M. P. van der Schroeff; L. J. C. Rotteveel; F. G. Ropers; J. C. C. Widdershoven; J. R. Hof; E. K. Vanhoutte; I. Feenstra; H. Kremer; C. P. Lanting; R. J. E. Pennings; H. G. Yntema; R. H. Free; J. S. Klein Wassink-Ruiter; R. J. Stokroos; A. L. Smit; M. J. van den Boogaard; F. A. Ebbens; S. M. Maas; A. Plomp; T. P. M. Goderie; P. Merkus; J. van de Kamp; Frans P. M. Cremers; Susanne Roosing; Helger G. Yntema; Erik de Vrieze; Ronny Derks; Alexander Hoischen; Sjoert A. H. Pegge; Kornelia Neveling; Ronald J. E. Pennings; Hannie Kremer
Hum Genet
DOOFNL Consortium 2021, 'Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant', Human Genetics. https://doi.org/10.1007/s00439-021-02336-6
Human Genetics, 141, 3-4, pp. 465-484
DOOFNL Consortium 2021, 'Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant', Human Genetics. https://doi.org/10.1007/s00439-021-02336-6
Human Genetics, 141, 3-4, pp. 465-484
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
American Journal of Human Genetics, 108, 7, pp. 1330-1341
Am.J . Hum. Genet. 108, 1330-1341 (2021)
Am.
Academic Journal
van der Sluijs, P.J.; Gösgens, M.; Dingemans, A.J.M.; Striano, P.; Riva, A.; Mignot, C.; Faudet, A.; Vasileiou, G.; Walther, M.; Schrier Vergano, S.A.; Alders, M.; Alkuraya, F.S.; Alorainy, I.; Alsaif, H.S.; Anderlid, B.; Bache, I.; van Beek, I.; Blanluet, M.; van Bon, B.W.; Brunet, T.; Brunner, H.; Carriero, M.L.; Charles, P.; Chatron, N.; Coccia, E.; Dubourg, C.; Earl, R.K.; Eichler, E.E.; Faivre, L.; Foulds, N.; Graziano, C.; Guerrot, A.M.; Hashem, M.O.; Heide, S.; Heron, D.; Hickey, S.E.; Hopman, S.M.J.; Kattentidt-Mouravieva, A.; Kerkhof, J.; Klein Wassink-Ruiter, J.S.; Kurtz-Nelson, E.C.; Kušíková, K.; Kvarnung, M.; Lecoquierre, F.; Leszinski, G.S.; Loberti, L.; Magoulas, P.L.; Mari, F.; Maystadt, I.; Merla, G.; Milunsky, J.M.; Moortgat, S.; Nicolas, G.; Leary, M.O.’; Odent, S.; Ozmore, J.R.; Parbhoo, K.; Pfundt, R.; Piccione, M.; Pinto, A.M.; Popp, B.; Putoux, A.; Rehm, H.L.; Reis, A.; Renieri, A.; Rosenfeld, J.A.; Rossi, M.; Salzano, E.; Saugier-Veber, P.; Seri, M.; Severi, G.; Sonmez, F.M.; Strobl-Wildemann, G.; Stuurman, K.E.; Uctepe, E.; Van Esch, H.; Vitetta, G.; de Vries, B.B.A.; Wahl, D.; Wang, T.; Zacher, P.; Heitink, K.R.; Ropers, F.G.; Steenbeek, D.; Rybak, T.; Santen, G.W.E.
Genetics in Medicine Open. 2
Academic Journal
Goodman, Lindsey D. ; Cope, Heidi ; Nil, Zelha ; Ravenscroft, Thomas A. ; Charng, Wu-Lin ; Lu, Shenzhao ; Tien, An-Chi ; Pfundt, Rolph ; Koolen, David A. ; Haaxma, Charlotte A. ; Veenstra-Knol, Hermine E. ; Wassink-Ruiter, Jolien S. Klein ; Wevers, Marijke R. ; Jones, Melissa ; Walsh, Laurence E. ; Klee, Victoria H. ; Theunis, Miel ; Legius, Eric ; Steel, Dora ; Barwick, Katy E.S. ; Kurian, Manju A. ; Mohammad, Shekeeb S. ; Dale, Russell C. ; Terhal, Paulien A. ; van Binsbergen, Ellen ; Kirmse, Brian ; Robinette, Bethany ; Cogné, Benjamin ; Isidor, Bertrand ; Grebe, Theresa A. ; Kulch, Peggy ; Hainline, Bryan E. ; Sapp, Katherine ; Morava, Eva ; Klee, Eric W. ; Macke, Erica L. ; Trapane, Pamela ; Spencer, Christopher ; Si, Yue ; Begtrup, Amber ; Moulton, Matthew J. ; Dutta, Debdeep ; Kanca, Oguz ; Wangler, Michael F. ; Yamamoto, Shinya ; Bellen, Hugo J. ; Tan, Queenie K.-G.
In The American Journal of Human Genetics 2 September 2021 108(9):1669-1691
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
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 ; 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
In Genetics in Medicine March 2020 22(3):524-537
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
Kerstjens-Frederikse, Wilhelmina S. ; van de Laar, Ingrid M.B.H. ; Vos, Yvonne J. ; Verhagen, Judith M.A. ; Berger, Rolf M.F. ; Lichtenbelt, Klaske D. ; Klein Wassink-Ruiter, Jolien S. ; van der Zwaag, Paul A. ; du Marchie Sarvaas, Gideon J. ; Bergman, Klasien A. ; Bilardo, Catia M. ; Roos-Hesselink, Jolien W. ; Janssen, Johan H.P. ; Frohn-Mulder, Ingrid M. ; van Spaendonck-Zwarts, Karin Y. ; van Melle, Joost P. ; Hofstra, Robert M.W. ; Wessels, M.W.
In Genetics in Medicine September 2016 18(9):914-923
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
Jeroen J. Smits; Suzanne E. de Bruijn; Cornelis P. Lanting; Jaap Oostrik; Luke O’Gorman; Tuomo Mantere; M. F. van Dooren; S. G. Kant; H. H. W. de Gier; E. H. Hoefsloot; M. P. van der Schroeff; L. J. C. Rotteveel; F. G. Ropers; J. C. C. Widdershoven; J. R. Hof; E. K. Vanhoutte; I. Feenstra; H. Kremer; C. P. Lanting; R. J. E. Pennings; H. G. Yntema; R. H. Free; J. S. Klein Wassink-Ruiter; R. J. Stokroos; A. L. Smit; M. J. van den Boogaard; F. A. Ebbens; S. M. Maas; A. Plomp; T. P. M. Goderie; P. Merkus; J. van de Kamp; Frans P. M. Cremers; Susanne Roosing; Helger G. Yntema; Erik de Vrieze; Ronny Derks; Alexander Hoischen; Sjoert A. H. Pegge; Kornelia Neveling; Ronald J. E. Pennings; Hannie Kremer
Human Genetics. 141:991-991
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
Academic Journal
Bamshad, Michael J.; Shendure, Jay; Nickerson, Deborah A.; Abecasis, Gonçalo R.; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L.; Buckingham, Kati J.; Chen, Christina; Chin, Jennifer; Chong, Jessica X.; 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; Marvin, Colby T.; McMillin, Margaret J.; 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; Shively, Kathryn M.; Siegel, Deborah L.; Smith, Joshua D.; Staples, Jeffrey C.; Tabor, Holly K.; Tackett, Monica; Underwood, Jason G.; Wegener, Marc; Wang, Gao; Wheeler, Marsha M.; Yi, Qian; Beck, Anita E. ; Armenteros, Jose R. ; Nkinsi, Naomi T. ; Boyle, Evan A. ; Berry, Margaret N. ; Bocian, Maureen ; Foulds, Nicola ; Uzielli, Maria Luisa Giovannucci ; Haldeman-Englert, Chad ; Hennekam, Raoul C.M. ; Kaplan, Paige ; Kline, Antonie D. ; Mercer, Catherine L. ; Nowaczyk, Malgorzata J.M. ; Klein Wassink-Ruiter, Jolien S. ; McPherson, Elizabeth W. ; Moreno, Regina A. ; Scheuerle, Angela E. ; Shashi, Vandana ; Stevens, Cathy A. ; Carey, John C. ; Monteil, Arnaud ; Lory, Philippe ; Bamshad, Michael J.
In The American Journal of Human Genetics 5 March 2015 96(3):462-473
Deden, A. C.; Vissers, L. E. L. M.; Keizer, R. A. C. M. Olde; Frederix, G. W. J.; Andriessen, P.; Bergman, K. A.; van Lingen, R. A.; de Vries, L. S.; Lichtenbelt, K. D.; Kerstjens-Frederikse, W. S.; Krapels, I. P. C.; Wassink-Ruiter, J. S. Klein; Neveling, K.; Nelen, M.; Castelein, S.; del Rosario, M.; van den Heuvel, S.; Gilissen, C.; Kamsteeg, E.; Pfundt, R.; Rinne, T.; Yntema, H. G.; Sinke, R. J.; de Boode, W. P.; Zelst-Stams, W. A. G.
EJHG. 27:1522-1523
Kerstjens-Frederikse, W. S.; van der Hout, A. H.; Vos, Y. J.; Dijkhuizen, T.; Verheij, J. B. G. M.; van Langen, I. M.; Sikkema-Raddatz, B.; de Groot, M. J.; Drok, H. H. J.; Kinds, R.; Beunders, G.; Zonneveld-Huijssoon, E.; Herkert, J. C.; Vansenne, F.; Wassink-Ruiter, J. S. Klein; Gerkes, E.; van der Velde, K. J.; Swertz, M. A.; Sinke, R. J.; van Diemen, C. C.
EJHG. 27:508-509
Academic Journal
Vincent Strehlow; Henrike O Heyne; Danique R M Vlaskamp; Katie F M Marwick; Gabrielle Rudolf; Julitta de Bellescize; Saskia Biskup; Eva H Brilstra; Oebele F Brouwer; Petra M C Callenbach; Julia Hentschel; Edouard Hirsch; Peter C Kind; Cyril Mignot; Konrad Platzer; Patrick Rump; Paul A Skehel; David J A Wyllie; Giles E Hardingham; Conny M A van Ravenswaaij-Arts; Gaetan Lesca; Johannes R Lemke; Alexis Arzimanoglou; Paul B Augustijn; Patrick Van Bogaert; Helene Bourry; Peter Burfeind; Yoyo Chu; Brian Chung; Diane Doummar; Patrick Edery; Aviva Fattal-Valevski; Mélanie Fradin; Marion Gerard; Christa de Geus; Boudewijn Gunning; Danielle Hasaerts; Ingo Helbig; Katherine L Helbig; Rami Jamra; Mélanie Jennesson Lyver; Jolien S Klein Wassink-Ruiter; David A Koolen; Damien Lederer; Roelineke J Lunsing; Mikaël Mathot; Hélène Maurey; Shay Menascu; Anne Michel; Ghayda Mirzaa; Diana Mitter; Hiltrud Muhle; Rikke S Møller; Caroline Nava; Margaret O’Brien; Evelyn van Pinxteren-Nagler; Anne van Riesen; Christelle Rougeot; Damien Sanlaville; Jolanda H Schieving; Steffen Syrbe; Hermine E Veenstra-Knol; Nienke Verbeek; Dorothée Ville; Yvonne J Vos; Pascal Vrielynck; Sabrina Wagner; Sarah Weckhuysen; Marjolein H Willemsen
Brain
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize,J , Biskup, S , Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J , Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize,J , Biskup, S , Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J , Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize,
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize,
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
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