학술논문
'학술논문'
에서 검색결과 59건 | 목록
1~10
Academic Journal
Van Dijck, A; Vulto-van Silfhout, AT; Cappuyns, E; van der Werf, IM; Mancini, GM; Tzschach, A; Bernier, R; Gozes, I; Eichler, EE; Romano, C; Lindstrand, A; Nordgren, A; Kvarnung, M; Kleefstra, T; de Vries, BBA; Kury, S; Rosenfeld, JA; Meuwissen, ME; Vandeweyer, G; Kooy, RF; Bakshi, M; Wilson, M; Berman, Y; Dickson, R; Fransen, E; Helsmoortel, C; Van den Ende, J; Van der Aa, N; van de Wijdeven, MJ; Rosenblum, J; Monteiro, F; Kok, F; Quercia, N; Bowdin, S; Dyment, D; Chitayat, D; Alkhunaizi, E; Boonen, SE; Keren, B; Jacquette, A; Faivre, L; Bezieau, S; Isidor, B; Riess, A; Moog, U; Lynch, SA; McVeigh, T; Elpeleg, O; Smeland, MF; Fannemel, M; van Haeringen, A; Maas, SM; Veenstra-Knol, HE; Schouten, M; Willemsen, MH; Marcelis, CL; Ockeloen, C; van der Burgt, I; Feenstra, I; van der Smagt, J; Jezela-Stanek, A; Krajewska-Walasek, M; Gonzalez-Lamuno, D; Anderlid, BM; Malmgren, H; Nordenskjold, M; Clement, E; Hurst, J; Metcalfe, K; Mansour, S; Lachlan, K; Clayton-Smith, J; Hendon, LG; Abdulrahman, OA; Morrow, E; McMillan, C; Gerdts, J; Peeden, J; Vergano, SAS; Valentino, C; Chung, WK; Ozmore, JR; Bedrosian-Sermone, S; Dennis, A; Treat, K; Hughes, SS; Safina, N; Le Pichon, JB; McGuire, M; Infante, E; Madan-Khetarpal, S; Desai, S; Benke, P; Krokosky, A; Cristian, I; Baker, L; Gripp, K; Stessman, HA; Eichenberger, J; Jayakar, P; Pizzino, A; Manning, MA; Slattery, L
Biological psychiatry. 85(4):287-297
Academic Journal
Stessman, HAF; Willemsen, MH; Fenckova, M; Penn, O; Hoischen, A; Xiong, B; Wang, TY; Hoekzema, K; Vives, L; Voge, I; Brunner, HG; van der Burgt, I; Ockeloen, CW; Schuurs-Hoeijmakers, JH; Wassink-Ruiter, JSK; Stumpel, C; Stevens, SJC; Vles, HS; Marcelis, CM; van Bokhoven, H; Cantagrel, V; Colleaux, L; Nicouleau, M; Lyonnet, S; Bernier, RA; Gerdts, J; Coe, BP; Romano, C; Alberti, A; Grillo, L; Scuderi, C; Nordenskjold, M; Kvarnung, M; Guo, H; Xia, K; Piton, A; Gerard, B; Genevieve, D; Delobel, B; Lehalle, D; Perrin, L; Prieur, F; Thevenon, J; Gecz, J; Shaw, M; Pfundt, R; Keren, B; Jacquette, A; Schenck, A; Eichler, EE; Kleefstra, Tz
American journal of human genetics. 98(3):541-552
Electronic Resource
Geerts-Haages, A; Bossuyt, SNV; den Besten, Ilse; Brüggenwirth, Hennie; van der Burgt, I; Yntema, HG; Punt, Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, M.J.
Geerts-Haages , A , Bossuyt , SNV , den Besten , I , Brüggenwirth , H , van der Burgt , I , Yntema , HG , Punt , M , Brooks , A , Elgersma , Y , Distel , B & Valstar , M J 2020 , ' A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 11 , e1481 .
Academic Journal
Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E MHF; del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C L; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J HM; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B BA; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A
Clinical Genetics. Dec 01, 2013 84(6):539-545
Academic Journal
Journal of Medical Genetics. Sep 01, 2010 47(9):586-594
Academic Journal
Academic Journal
Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M
Clinical Genetics. Jan 01, 2008 73(1):62-70
Academic Journal
The Journal of Investigative Dermatology. May 01, 2005 124 Suppl 4:A76-A76
Academic Journal
Hiel, J A P; Weemaes, C M R; van Engelen, B G M; Smeets, D; Ligtenberg, M; van der Burgt, I; van den Heuvel, L P W J; Cerosaletti, K M; Gabreëls, F J M; Concannon, P
Journal of Medical Genetics. Jun 01, 2001 38(6):e19-e19
Academic Journal
ION, A; CROSBY, A H; KREMER, H; KENMOCHI, N; VAN REEN, M; FENSKE, C; VAN DER BURGT, I; BRUNNER, H G; MONTGOMERY, K; KUCHERLAPATI, R S; PATTON, M A; PAGE, D C; MARIMAN, E; JEFFERY, S
Journal of Medical Genetics. Nov 01, 2000 37(11):884-886
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