Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency von Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A

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Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics von Rooms, L, Reyniers, E, Wuyts, W, Storm, K, Van Luijk, R, Scheers, S, Wauters, J, Van Den Ende, J, Biervliet, M, Eyskens, F, Van Goethem, G, Laridon, A, Ceulemans, B, Courtens, W, Kooy, RF

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G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency von Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J.J, Suls, A, Vriendt, E.D, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P.F.M, Furst, D.O, Mitev, V, Lochmuller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A

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Mildly impaired water maze performance in male Fmr1 knockout mice von D'Hooge, R., Nagels, G., Franck, F., Bakker, C.E., Reyniers, E., Storm, K., Kooy, R.F., Oostra, B.A., Willems, P.J., De Deyn, P.P.

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism von de Vries, Bert B A, Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco, Schinzel, Albert, Baumer, Alessandra, Anderlid, Britt-Marie, Schoumans, Jacqueline, Knoers, Nine V, van Kessel, Ad Geurts, Sistermans, Erik A, Veltman, Joris A, Brunner, Han G

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Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 von Wu, Yuan-Qing, Heutink, Peter, de Vries, Bert B. A., Sandkuijl, Lodewijk A., van den Ouweland, Ans M. W., Niermeijer, Martinus F., Galjaard, Hans, Reyniers, Edwin, Willems, Patrick J., J. J.Halley, Dicky

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Expression profiling suggests underexpression of the GABA A receptor subunit δ in the fragile X knockout mouse model von Gantois, Ilse, Vandesompele, Jo, Speleman, Frank, Reyniers, Edwin, D'Hooge, Rudi, Severijnen, Lies-Anne, Willemsen, Rob, Tassone, Flora, Kooy, R. Frank

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The Reduced Expression of the HADH2 Protein Causes X-Linked Mental Retardation, Choreoathetosis, and Abnormal Behavior von Lenski, Claus, Frank Kooy, R., Reyniers, Edwin, Loessner, Daniela, Wanders, Ronald J.A., Winnepenninckx, Birgitta, Hellebrand, Heide, Engert, Stefanie, Schwartz, Charles E., Meindl, Alfons, Ramser, Juliane

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Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods von Rooms, Liesbeth, Reyniers, Edwin, Kooy, R. Frank

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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) von Rooms, Liesbeth, Reyniers, Edwin, Luijk, Rob van, Scheers, Stefaan, Wauters, Jan, Ceulemans, Berten, Van Den Ende, Jenneke, Van Bever, Yolande, Kooy, R. Frank

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Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice von Van Dam, Debby, D'Hooge, Rudi, Hauben, Ehud, Reyniers, Edwin, Gantois, Ilse, Bakker, Cathy E, Oostra, Ben A, Kooy, R.Frank, De Deyn, Peter P

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Gene Conversion between Red and Defective Green Opsin Gene in Blue Cone Monochromacy von REYNIERS, EDWIN, VANTHIENEN, MARIE-NOËLLE, MEIRE, FRANÇOISE, DEBOULLE, KRISTEL, DEVRIES, KRISTINE, KESTELIJN, PHILIP, WILLEMS, PATRICK J.

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Fmr1 knockout mice: A model to study fragile X mental retardation von The Dutch-Belgian Fragile X Consorthium, Bakker, Cathy E., Verheij, Coleta, Willemsen, Rob, van der Helm, Robert, Oerlemans, Frank, Vermey, Marcel, Bygrave, Anne, Hoogeveen, AndréT., Oostra, Ben A., Reyniers, Edwin, De Boule, Kristel, D'Hooge, Rudi, Cras, Patrick, van Velzen, Désiré, Nagels, Guy, Martin, Jean-Jacques, De Deyn, Peter P., Darby, John K., Willems, Patrick J.

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L1 Knockout Mice Show Dilated Ventricles, Vermis Hypoplasia and Impaired Exploration Patterns von Fransen, Erik, D'Hooge, Rudi, Van Camp, Guy, Verhoye, Marleen, Sijbers, Jan, Reyniers, Edwin, Soriano, Philippe, Kamiguchi, Hiroyuki, Willemsen, Rob, Koekkoek, Sebastiaan K. E., De Zeeuw, Chris I., De Deyn, Peter P., Van der Linden, Annemie, Lemmon, Vance, Kooy, R. Frank, Willems, Patrick J.

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Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype von van Bever, Yolande, Rooms, Liesbeth, Laridon, Annick, Reyniers, Edwin, van Luijk, Rob, Scheers, Stefaan, Wauters, Jan, Kooy, R. Frank

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A point mutation in the FMR-1 gene associated with fragile X mental retardation von Van Roy, Bernadette, Willems, Patrick J, De Boulle, Kristel, Reyniers, Edwin, Hendrickx, Jan, Van Den Bos, Feikje, Verkerk, Annemieke J.M.H, Oostra, Ben A, Vits, Lieve, de Graaff, Esther

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Alternative splicing in the fragile X gene FMR1 von Verkerk, A.J.M.H., de Graaff, E., De Boulle, K., Eichler, E.E., Konecki, D.S., Reyniers, E., Manca, A., Poustka, A., Willems, P.J., Nelson, D.L., Oostra, B.A.

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Somatic and gonadal mosaicism in Hutchinson–Gilford progeria von Wuyts, Wim, Biervliet, Martine, Reyniers, Edwin, D'Apice, Maria Rosaria, Novelli, Giuseppe, Storm, Katrien

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Distil myopathy with upper limb predominance caused by filamin C haploinsufficiency von GUERGUELTCHEVA, V, PEETERS, K, YDENS, E, TZEKOV, C, HADJIDEKOV, G, GOSPODINOVA, M, STORM, K, REYNIERS, E, BICHEV, S, VAN DER VEN, P. F. M, FURST, D. O, MITEV, V, BAETS, J, LOCHMÜLLER, H, TIMMERMAN, V, TOURNEV, I, DE JONGHE, P, JORDANOVA, A, CEUTERICK-DE GROOTE, C, MARTIN, J. J, SULS, A, DE VRIENDT, E, MIHAYLOVA, V, CHAMOVA, T, ALMEIDA-SOUZA, L

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Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses von Wuyts, Wim, Van Hul, Wim, Wauters, Jan, Nemtsova, Marina, Reyniers, Edwin, Van Hul, Els, De Boulle, Kristel, de Vries, Bert B. A., Hendrickx, Jan, Herrygers, Ilde, Bossuyt, Paul, Balemans, Wendy, Fransen, Erik, Vits, Lieve, Coucke, Paul, Nowak, Norma J., Shows, Thomas B., Mallet, Laurence, van den Ouweland, Ans M. W., McGaughran, Julie, Halley, Dicky J. J., Willems, Patrick J.

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