Congenital hydrocephalus in clinical practice: A genetic diagnostic approach von Verhagen, J.M.A, Schrander-Stumpel, C.T.R.M, Krapels, I.P.C, de Die-Smulders, C.E.M, van Lint, F.H.M, Willekes, C, Weber, J.W, Gavilanes, A.W.D, Macville, M.V.E, Stegmann, A.P.A, Engelen, J.J.M, Bakker, J, Vos, Y.J, Frints, S.G.M

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Adducted thumbs: A clinical clue to genetic diagnosis von Verhagen, J.M.A, Schrander-Stumpel, C.T.R.M, Blezer, M.M.J, Weber, J.W, Schrander, J.J.P, Rubio-Gozalbo, M.E, Bakker, J.A, Stegmann, A.P.A, Vos, Y.J, Frints, S.G.M

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Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 von Mersy, E, Smits, L J M, van Winden, L A A P, de Die-Smulders, C E M, Paulussen, A D C, Macville, M V E, Coumans, A B C, Frints, S G M

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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse von Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., van Dooren, M.F., de Gier, H.H.W., Hoefsloot, E.H., van der Schroeff, M.P., Kant, S.G., Rotteveel, L.J.C., Frints, S.G.M., Hof, J.R., Stokroos, R.J., Vanhoutte, E.K., Admiraal, R.J.C., Feenstra, I., Kremer, H., Kunst, H.P.M., Pennings, R.J.E., Yntema, H.G., van Essen, A.J., Free, R.H., Klein-Wassink, J.S., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie

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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells von Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S-i, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M, Okazawa, H

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes von Hu, H, Haas, S.A, Chelly, J, Van Esch, Hilde, Raynaud, M, de Brouwer, A.P.M, Weinert, S, Froyen, Guy, Frints, S.G.M, Laumonnier, F, Zemojtel, T, Love, M.I, Richard, H, Emde, A.-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M.A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K.L, Belet, S, van Roozendaal, K.E.P, Jimenez-Pocquet, M, Moizard, M.-P, Ronce, N, Sun, R, O'Keeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L.B, Wieacker, P, Rodríguez Criado, G, Bondeson, M.-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, Jean-Pierre, Devriendt, Koenraad, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T.F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T.J, Chen, W, Ropers, H.-H, Kalscheuer, V.M

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A third MRX family von Longo, I, Frints, S.G.M, Fryns, J-P, Meloni, I, Pescucci, C, Ariani, F, Borghgraef, M, Raynaud, M, Marynen, P, Schwartz, C, Renieri, A, Froyen, G

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