Showing 1 - 13 results of 13 for search 'Brunner H.', query time: 0.03s
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A text-mining analysis of the human phenome. by Driel, v, Bruggeman, J, Vriend, G, Brunner, H, Leunissen, J
Published 2006Journal article -
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Accurate distinction of pathogenic from benign CNVs in mental retardation. by Hehir-Kwa, J, Wieskamp, N, Webber, C, Pfundt, R, Brunner, H, Gilissen, C, de Vries, B, Ponting, C, Veltman, J
Published 2010Journal article -
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X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. by Huber, I, Bitner-Glindzicz, M, de Kok, Y, van der Maarel, S, Ishikawa-Brush, Y, Monaco, A, Robinson, D, Malcolm, S, Pembrey, M, Brunner, H
Published 1994Journal article -
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From Copy Number Identification to Copy Number Interpretation and back again by Hehir-Kwa, J, Pfundt, R, de Ligt, J, Webber, C, Verwiel, E, del Rosario, M, Wieskamp, N, de Leeuw, N, Brunner, H, Ponting, C, Veltman, J
Published 2012Conference item -
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Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders by Van Der Donk, R, Jansen, S, Schuurs-Hoeijmakers, J, Koolen, D, Goltstein, L, Hoischen, A, Brunner, H, Kemmeren, P, Nellaker, C, Vissers, L, De Vries, B, Hehir-Kwa, J
Published 2018Journal article -
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Characterization of a recurrent 15q24 microdeletion syndrome. by Sharp, A, Selzer, R, Veltman, J, Gimelli, S, Gimelli, G, Striano, P, Coppola, A, Regan, R, Price, S, Knoers, N, Eis, P, Brunner, H, Hennekam, R, Knight, S, de Vries, B, Zuffardi, O, Eichler, E
Published 2007Journal article -
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The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. by Twigg, SR, Matsumoto, K, Kidd, A, Goriely, A, Taylor, I, Fisher, R, Hoogeboom, A, Mathijssen, I, Lourenco, M, Morton, J, Sweeney, E, Wilson, L, Brunner, H, Mulliken, J, Wall, SA, Wilkie, A
Published 2006Journal article -
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Clinical significance of de novo and inherited copy-number variation. by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, de Vries, B
Published 2013Journal article -
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Clinical Significance of De Novo and Inherited Copy-Number Variation by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, De Vries, B
Published 2013Journal article -
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. by Koolen, D, Vissers, L, Pfundt, R, de Leeuw, N, Knight, S, Regan, R, Kooy, R, Reyniers, E, Romano, C, Fichera, M, Schinzel, A, Baumer, A, Anderlid, B, Schoumans, J, Knoers, N, van Kessel, A, Sistermans, E, Veltman, J, Brunner, H, de Vries, B
Published 2006Journal article -
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. by Twigg, SR, Babbs, C, van den Elzen, M, Goriely, A, Taylor, S, McGowan, S, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, S, Zechi-Ceide, R, Hoogeboom, J, Pober, B, Toriello, H, Wall, SA, Rita Passos-Bueno, M, Brunner, H, Mathijssen, I, Wilkie, A
Published 2013Journal article -
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Identification of common variants associated with human hippocampal and intracranial volumes. by Stein, J, Medland, SE, Vasquez, A, Hibar, D, Senstad, R, Winkler, A, Toro, R, Appel, K, Bartecek, R, Bergmann, Ø, Bernard, M, Brown, A, Cannon, D, Chakravarty, M, Christoforou, A, Domin, M, Grimm, O, Hollinshead, M, Holmes, A, Homuth, G, Hottenga, J, Langan, C, Lopez, L, Hansell, N, Hwang, K, Kim, S, Laje, G, Lee, P, Liu, X, Loth, E, Lourdusamy, A, Mattingsdal, M, Mohnke, S, Maniega, S, Nho, K, Nugent, A, O'Brien, C, Papmeyer, M, Pütz, B, Ramasamy, A, Rasmussen, J, Rijpkema, M, Risacher, S, Roddey, J, Rose, E, Ryten, M, Shen, L, Sprooten, E, Strengman, E, Teumer, A, Trabzuni, D, Turner, J, van Eijk, K, van Erp, T, van Tol, M, Wittfeld, K, Wolf, C, Woudstra, S, Aleman, A, Alhusaini, S, Almasy, L, Binder, E, Brohawn, D, Cantor, R, Carless, M, Corvin, A, Czisch, M, Curran, J, Davies, G, Almeida, d, Delanty, N, Depondt, C, Duggirala, R, Dyer, T, Erk, S, Fagerness, J, Fox, P, Freimer, N, Gill, M, Göring, H, Hagler, D, Hoehn, D, Holsboer, F, Hoogman, M, Hosten, N, Jahanshad, N, Johnson, M, Kasperaviciute, D, Kent, J, Kochunov, P, Lancaster, J, Lawrie, S, Liewald, D, Mandl, R, Matarin, M, Mattheisen, M, Meisenzahl, E, Melle, I, Moses, E, Mühleisen, T, Nauck, M, Nöthen, M, Olvera, R, Pandolfo, M, Pike, G, Puls, R, Reinvang, I, Rentería, M, Rietschel, M, Roffman, J, Royle, N, Rujescu, D, Savitz, J, Schnack, H, Schnell, K, Seiferth, N, Smith, C, Steen, V, Hernández, V, Van den Heuvel, M, van der Wee, N, Van Haren, N, Veltman, J, Völzke, H, Walker, R, Westlye, LT, Whelan, C, Agartz, I, Boomsma, D, Cavalleri, G, Dale, A, Djurovic, S, Drevets, W, Hagoort, P, Hall, J, Heinz, A, Jack, C, Foroud, T, Le Hellard, S, Macciardi, F, Montgomery, G, Poline, J, Porteous, D, Sisodiya, S, Starr, J, Sussmann, J, Toga, A, Veltman, D, Walter, H, Weiner, M, Bis, J, Ikram, M, Smith, A, Gudnason, V, Tzourio, C, Vernooij, M, Launer, L, DeCarli, C, Seshadri, S, Andreassen, O, Apostolova, L, Bastin, M, Blangero, J, Brunner, H, Buckner, R, Cichon, S, Coppola, G, de Zubicaray, G, Deary, I, Donohoe, G, de Geus, E, Espeseth, T, Fernández, G, Glahn, D, Grabe, H, Hardy, J, Hulshoff Pol, H, Jenkinson, M, Kahn, R, McDonald, C, McIntosh, A, McMahon, F, McMahon, K, Meyer-Lindenberg, A, Morris, D, Müller-Myhsok, B, Nichols, T, Ophoff, R, Paus, T, Pausova, Z, Penninx, B, Potkin, S, Sämann, P, Saykin, A, Schumann, G, Smoller, J, Wardlaw, J, Weale, M, Martin, N, Franke, B, Wright, M, Thompson, P
Published 2012Journal article