학술논문
'학술논문'
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1~10
Academic Journal
van der Made, CI; Kersten, S; Chorin, O; Engelhardt, KR; Ramakrishnan, G; Griffin, H; van der Loeff, IS; Venselaar, H; Rothschild, AR; Segev, M; Schuurs-Hoeijmakers, JHM; Mantere, T; Essers, R; Esteki, MZ; Avital, AL; Loo, PS; Simons, A; Pfundt, R; Warris, A; Seyger, MM; van de Veerdonk, FL; Netea, MG; Slatter, MA; Flood, T; Gennery, AR; Simon, AJ; Lev, A; Frizinsky, S; Barel, O; van der Burg, M; Somech, R; Hambleton, S; Henriet, SSV; Hoischen, A
American journal of human genetics. 111(4):791-804
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
Verberne, EA; Goh, SX; England, J; van Ginkel, M; Rafael-Croes, L; Maas, S; Polstra, A; Zarate, YA; Bosanko, KA; Pechter, KB; Bedoukian, E; Izumi, K; Chaudhry, A; Robin, NH; Boothe, M; Lippa, NC; Aggarwal, V; De Vivo, DC; Lehman, A; Stockler, S; Bruel, AL; Isidor, B; Lemons, J; Rodriguez-Buritica, DF; Richmond, CM; Stark, Z; Agrawal, PB; Kooy, RF; Meuwissen, MEC; Koolen, DA; Pfundt, R; Lieden, A; Anderlid, BM; Glatz, D; Mannens, MMAM; Bakshi, M; Mallette, FA; van Haelst, MM; Campeau, PM
Genetics in medicine : official journal of the American College of Medical Genetics. 23(2):374-383
Academic Journal
Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; Beunders, G; Bisgaard, AM; Bjerregaard, VA; Bruel, AL; Challman, TD; Cogne, B; Coubes, C; de Man, SA; Denomme-Pichon, AS; Dye, TJ; Elmslie, F; Feuk, L; Garcia-Minaur, S; Gertler, T; Giorgio, E; Gruchy, N; Haack, TB; Haldeman-Englert, CR; Haukanes, BI; Hoyer, J; Hurst, ACE; Isidor, B; Soller, MJ; Kushary, S; Kvarnung, M; Landau, YE; Leppig, KA; Lindstrand, A; Kleinendorst, L; MacKenzie, A; Mandrile, G; Mendelsohn, BA; Moghadasi, S; Morton, JE; Moutton, S; Muuller, AJ; O'Leary, M; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Pfundt, R; Pode-Shakked, B; Rauch, A; Repnikova, E; Revah-Politi, A; Ross, MJ; Ruivenkamp, CAL; Sarrazin, E; Savatt, JM; Schluter, A; Schonewolf-Greulich, B; Shad, Z; Shaw-Smith, C; Shieh, JT; Shohat, M; Spranger, S; Thiese, H; Mau-Them, FT; van Bon, B; van de Burgt, I; van de Laar, IMBH; van Drie, E; van Haelst, MM; van Ravenswaaij-Arts, CM; Verdura, E; Vitobello, A; Waldmuller, S; Whiting, S; Zweier, C; Prada, CE; de Vries, BBA; Dobyns, WB; Reiter, SF; Gomez-Puertas, P; Pujol, A; Tumer, Z
Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899
Academic Journal
Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM
American journal of human genetics. 104(3):530-541
Academic Journal
Verberne, EA; van der Laan, L; Haghshenas, S; Rooney, K; Levy, MA; Alders, M; Maas, SM; Jansen, S; Lieden, A; Anderlid, BM; Rafael-Croes, L; Campeau, PM; Chaudhry, A; Koolen, DA; Pfundt, R; Hurst, ACE; Tran-Mau-Them, F; Bruel, AL; Lambert, L; Isidor, B; Mannens, MMAM; Sadikovic, B; Henneman, P; van Haelst, MM
International journal of molecular sciences. 23(14)
Academic Journal
Jansen, S; Hoischen, A; Coe, BP; Carvill, GL; Van Esch, H; Bosch, DGM; Andersen, UA; Baker, C; Bauters, M; Bernier, RA; van Bon, BW; Claahsen-van der Grinten, HL; Gecz, J; Gilissen, C; Grillo, L; Hackett, A; Kleefstra, T; Koolen, D; Kvarnung, M; Larsen, MJ; Marcelis, C; McKenzie, F; Monin, ML; Nava, C; Schuurs-Hoeijmakers, JH; Pfundt, R; Steehouwer, M; Stevens, SJC; Stumpel, CT; Vansenne, F; Vinci, M; van de Vorst, M; de Vries, P; Witherspoon, K; Veltman, JA; Brunner, HG; Mefford, HC; Romano, C; Vissers, LELM; Eichler, EE; de Vries, BBA
European journal of human genetics : EJHG. 26(1):54-63
Academic Journal
Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Lord, CJ; Vissers, LELM; de Vries, BBA
American journal of human genetics. 100(4):650-658
Academic Journal
Bramswig, NC; Ludecke, HJ; Pettersson, M; Albrecht, B; Bernier, RA; Cremer, K; Eichler, EE; Falkenstein, D; Gerdts, J; Jansen, S; Kuechler, A; Kvarnung, M; Lindstrand, A; Nilsson, D; Nordgren, A; Pfundt, R; Spruijt, L; Surowy, HM; de Vries, BBA; Wieland, T; Engels, H; Strom, TM; Kleefstra, T; Wieczorek, D
Human genetics. 136(2):179-192
Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
American Journal of Human Genetics. 108(6)
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