학술논문
'학술논문'
에서 검색결과 66건 | 목록
1~10
Periodical
Hannes, F.D.; Sharp, A.J.; Mefford, H.C.; de Ravel, T.; Ruivenkamp, C.A.; Breuning, M.H.; Fryns, J.-P.; Devriendt, K.; Van Buggenhout, G.; Vogels, A.; Stewart, H.; Hennekam, R.C.; Cooper, G.M.; Regan, R.; Knight, S.J.L.; Eichler, E.E.; Vermeesch, J.R.
Journal of Medical Genetics. April 2009, Vol. 46 Issue 4, p223, 10 p.
Academic Journal
Tolchin, Dara; Yeager, Jessica P.; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian A.; Haseeb, Abdul; Angelozzi, Marco; Santen, G.W.E.; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Kuechler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; Van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian D.; Krock, Bryan L.; Pechter, Kieran B.; Arkader, Alexandre; Medne, Livija; DeChene, Elizabeth T.; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O.M.; Suri, Mohnish; Foulds, Nicola; Ambrose, J.C.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furio-Tari, P.; Hackett, J.M.; Halai, D.; Holman, J.E.; Hubbard, T.J.P.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Ryten, M.; Savage, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.
American Journal of Human Genetics. June 4, 2020, Vol. 106 Issue 6, 830
Academic Journal
Hoekstra, A.S.; Bayley, J.-P.; Devilee, P.; Addie, R.D.; Briaire-de Bruijn, I.H.; Corver, W.E.; Morreau, H.; Bovée, J.V.M.G.; Ras, C.; Seifar, R.M.; Ruivenkamp, C.A.; Hes, F.J.; Jansen, J.C.; Corssmit, E.P.
In: Human Molecular Genetics . (Human Molecular Genetics, 1 September 2016, 25(17):3715-3728)
Academic Journal
Lugtenberg, D.; Reijnders, M.R.F.; Fenckova, M.; Van Bon, B.W.M.; Vulto-van Silfhout, A.T.; Bosch, D.; Bongers, E.M.H.F.; Schuurs-Hoeijmakers, J.H.M.; Pfundt, R.; Yntema, H.G.; De Vries, P.F.; Veltman, J.A.; Hoischen, A.; Gilissen, C.; De Vries, B.B.A.; Schenck, A.; Kleefstra, T.; Vissers, L.E.L.M.; Bijlsma, E.K.; Ruivenkamp, C.A.; Santen, G.W.E.; Van Den Maagdenberg, A.M.J.M.; Bernier, R.; Smeets, E.; Eichler, E.E.; Mefford, H.C.; Carvill, G.L.; Peeters-Scholte, C.M.P.C.D.; Kuenen, S.; Verstreken, P.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 1 August 2016, 24(8):1145-1153)
Academic Journal
Lemke, J.R.; Geider, K.; Heyne, H.O.; Schütz, H.; Hentschel, J.; Laube, B.; Helbig, K.L.; Courage, C.; Depienne, C.; Nava, C.; Weckhuysen, S.; Heron, D.; Møller, R.S.; Hjalgrim, H.; Lal, D.; Nürnberg, P.; Thiele, H.; Neubauer, B.A.; Kurlemann, G.; Arnold, G.L.; Goldstein, A.; Rajan, D.S.; Bhambhani, V.; Bartholdi, D.; Pedurupillay, C.R.J.; Misceo, D.; Frengen, E.; Strømme, P.; Dlugos, D.J.; Helbig, I.; Doherty, E.S.; Bijlsma, E.K.; Ruivenkamp, C.A.; Hoffer, M.J.V.; Narayanan, V.; Ramsey, K.; Belnap, N.; Schrauwen, I.; Richholt, R.; Koeleman, B.P.C.; Kovel, C.G.F.D.; Sá, J.; Mendoncą, C.; Hardies, K.; Jonghe, P.D.; Meirleir, L.D.; Milh, M.; Badens, C.; Busa, T.; Lebrun, M.; Francannet, C.; Piton, A.; Riesch, E.; Biskup, S.; Vogt, H.; Dorn, T.; Michaud, J.L.; Syrbe, S.
In: Neurology . (Neurology, 7 June 2016, 86(23):2171-2178)
Academic Journal
Descipio, C.; Conlin, L.; Mulchandani, S.; Medne, L.; Clark, D.; Spinner, N.B.; Krantz, I.D.; Rosenfeld, J.; Tepperberg, J.; Pasion, R.; Patel, A.; McDonald, M.T.; Goldstein, J.; Aradhya, S.; Ho, D.; McGuire, M.; Serrano, A.H.; Rupps, R.; Thorland, E.C.; Tsai, A.C.-H.; Hilhorst-Hofstee, Y.; Ruivenkamp, C.A.; Van Esch, H.; Addor, M.-C.; Martinet, D.; Mason, T.B.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, September 2012, 158 A(9):2152-2161)
Academic Journal
Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Peters, D.J.M.; Breuning, M.H.; Hilhorst-Hofstee, Y.; Marijnissen, G.M.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, February 2010, 152(2):427-433)
Academic Journal
In: FEBS Letters . (FEBS Letters, 3 July 1998, 430(3):363-369)
Academic Journal
Aten, E.; White, S.J.; Kalf, M.E.; Vossen, R.H.A.M.; Thygesen, H.H.; Ruivenkamp, C.A.; Kriek, M.; Breuning, M.H.B.; Den Dunnen, J.T.
In: Cytogenetic and Genome Research . (Cytogenetic and Genome Research, March 2009, 123(1-4):313-321)
Academic Journal
Vezyroglou, A.; Barwick, K.; Kurian, M.A.; Cross, J.H.; Carr, L.; Akilapa, R.; Holder-Espinasse, M.; Koene, S.; Koopmann, T.T.; Ruivenkamp, C.A.L.; Brownstein, C.A.; Agrawal, P.B.; Fry, A.E.; Németh, A.H.; Tofaris, G.K.; Hay, E.; Male, A.; Hughes, I.; Mansour, S.; Mordekar, S.R.; Splitt, M.; Turnpenny, P.D.; Demetriou, D.; Clowes, V.; Ghali, N.; Holder, S.E.; Radley, J.; Sisodiya, S.M.; Balasubramanian, M.
In: Neurology . (Neurology, 4 October 2022, 99(14):E1511-E1526)
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[검색어] Ruivenkamp, C.A.
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