Showing 1 - 5 results of 5 for search 'Fichera, M', query time: 0.02s
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Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. by Koolen, D, Sistermans, E, Nilessen, W, Knight, S, Regan, R, Liu, Y, Kooy, R, Rooms, L, Romano, C, Fichera, M, Schinzel, A, Baumer, A, Anderlid, B, Schoumans, J, van Kessel, A, Nordenskjold, M, de Vries, B
Published 2008Journal 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 -
3
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. by Sharp, A, Mefford, H, Li, K, Baker, C, Skinner, C, Stevenson, R, Schroer, R, Novara, F, De Gregori, M, Ciccone, R, Broomer, A, Casuga, I, Wang, Y, Xiao, C, Barbacioru, C, Gimelli, G, Bernardina, B, Torniero, C, Giorda, R, Regan, R, Murday, V, Mansour, S, Fichera, M, Castiglia, L, Failla, P
Published 2008Journal article -
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P
Published 2009Journal article -
5
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P
Published 2009Journal article