Showing 1 - 3 results of 3 for search 'Houge, G', query time: 0.03s
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How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by Banka, S, Veeramachaneni, R, Reardon, W, Howard, E, Bunstone, S, Ragge, N, Parker, M, Crow, Y, Kerr, B, Kingston, H, Metcalfe, K, Chandler, K, Magee, A, Stewart, F, McConnell, V, Donnelly, D, Berland, S, Houge, G, Morton, J, Oley, C, Revencu, N, Park, S, Davies, S, Fry, A, Lynch, SA
Published 2012Journal article -
2
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome by Menke, LA, Gardeitchik, T, Hammond, P, Heimdal, KR, Houge, G, Hufnagel, SB, Ji, J, Johansson, S, Kant, SG, Kinning, E, Leon, EL, Newbury-Ecob, R, Paolacci, S, Pfundt, R, Ragge, NK, Rinne, T, Ruivenkamp, C, Saitta, SC, Sun, Y, Tartaglia, M, Terhal, PA, van Essen, AJ, Vigeland, MD, Xiao, B, Hennekam, RC
Published 2018Journal article -
3
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients by Moortgat, S, Berland, S, Maystadt, I, Baker, I, Wilkie, A, Benoit, V, Caro-Llopis, A, Cooper, N, Debray, F, Faivre, L, Gardeitchik, T, Haukanes, B, Houge, G, Kivuva, E, Martinez, F, Mehta, S, Nassogne, M, Powell-Hamilton, N, Pfundt, R, Rosello, M, Prescott, T, Vasudevan, P, van Loon, B, Verellen-Dumoulin, C, Verloes, A, von der Lippe, C, Wakeling, E, Wilson, L, Yuen, A, Low, K, Newbury-Ecob, R
Published 2017Journal article