ProfileOfResearchers

TITLE: Phenotype and Genotype in Nicolaides-Baraitser Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS) Full Text
AUTHORS: Sousa, SB; Hennekam, RC; Abdul Rahman, O; Alders, M; Azzarello Burri, S; Bottani, A; Bowdin, S; Castori, M; Cormier Daire, V; Deardorff, M; Del Campo Casanelles, M; Devriendt, K; Fauth, C; Filges, I; Fryer, A; Garavelli, L; Gillessen Kaesback, G; Hall, B; Hirofumi, O; Holder, S; Hoyer, J; Jenkins, L; Klapeki, J; Krajewska Walasek, M; Kosho, T; Kuechler, A; MacDermot, K; Magee, A; Mari, F; Mathieu Dramard, M; Napier, M; Perez Jurado, LA; Picard, FM; Morin, G; Murday, V; Pilch, J; Ronan, A; Rosser, E; Santen, GWE; Scott, R; Selicorni, A; Shannon, N; Santos Simarro, F; Stewart, H; van den Boogaard, MJ; Vilain, C; Vermeesch, J; Vogels, A; Wakeling, E; Wieczorek, D; Yesil, G; Zuffardi, O; Zweier, C; Sousa, SB; Hennekam, RC; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, VOLUME: 166, ISSUE: 3

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TITLE: Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Full Text
AUTHORS: Santen, GWE; Aten, E; Vulto van Silfhout, AT; Pottinger, C; van Bon, BWM; van Minderhout, IJHM; Snowdowne, R; van der Lans, CAC; Boogaard, M; Linssen, MML; Vijfhuizen, L; van der Wielen, MJR; Vollebregt, MJE; Breuning, MH; Kriek, M; van Haeringen, A; den Dunnen, JT; Hoischen, A; Clayton Smith, J; de Vries, BBA; Hennekam, RCM; van Belzen, MJ; Almureikhi, M; Baban, A; Barbosa, M; Ben Omran, T; Berry, K; Bigoni, S; Boute, O; Brueton, L; van der Burgt, I; Canham, N; Chandler, KE; Chrzanowska, K; Collins, AL; de Toni, T; Dean, J; den Hollander, NS; Flore, LA; Fryer, A; Gardham, A; Graham, JM; Harrison, V; Horn, D; Jongmans, MC; Josifova, D; Kant, SG; Kapoor, S; Kingston, H; Kini, U; Kleefstra, T; Krajewska-Walasek Malgorzata; Kramer, N; Maas, SM; Maciel, P ; Mancini Grazia M.S.; Maystadt, I; McKee, S; Milunsky, JM; Nampoothiri, S; Newbury Ecob, R; Nikkel, SM; Parker, MJ; Perez Jurado, LA; Robertson, SP; Rooryck, C; Shears, D; Silengo, M; Singh, A; Smigiel, R; Soares, G; Splitt, M; Stewart, H; Sweeney, E; Tassabehji, M; Temple, IK; Tuysuz, B; van Eerde, AM; Vincent Delorme, C; Wilson, LC; Yesil, G; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11

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