未登录Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Aligianis, IA; Johnson, CA; Gissen, P; Chen, DR; Hampshire, D; Hoffmann, K; Maina, EN; Morgan, NV; Tee, L; Morton, J; Ainsworth, JR; Horn, D; Rosser, E; Cole, TRP; Stolte-Dijkstra, I; Fieggen, K; Clayton-Smith, J; Mégarbané, A; Shield, JP; Newbury-Ecob, R; Dobyns, WB; Graham, JM; Kjaer, KW; Warburg, M; Bond, J; Trembath, RC; Harris, LW; Takai, Y; Mundlos, S; Tannahill, D; Woods, CG; Maher, ER .png)
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收藏Delineation of Cohen syndrome following a large-scale genotype-phenotype screenKolehmainen, J; Wilkinson, R; Lehesjoki, AE; Chandler, K; Kivitie-Kallio, S; Clayton-Smith, J; Träskelin, AL; Waris, L; Saarinen, A; Khan, J; Gross-Tsur, V; Traboulsi, EI; Warburg, M; Fryns, JP; Norio, R; Black, GCM; Manson, FDC 分享 收藏 分享 收藏 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportKolehmainen, J; Black, GCM; Saarinen, A; Chandler, K; Clayton-Smith, J; Träskelin, AL; Perveen, R; Kivitie-Kallio, S; Norio, R; Warburg, M; Fryns, JP; de la Chapelle, A; Lehesjoki, AE 分享 收藏 A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathiesBondurand, N; Kuhlbrodt, K; Pingault, V; Enderich, J; Sajus, M; Tommerup, N; Warburg, M; Hennekam, RCM; Read, AP; Wegner, M; Goossens, N 分享 收藏 Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21Bruford, EA; Riise, R; Teague, PW; Porter, K; Thomson, KL; Moore, AT; Jay, M; Warburg, M; Schinzel, A; Tommerup, N; Tornqvist, K; Rosenberg, T; Patton, M; Mansfield, DC; Wright, AF 分享 收藏 
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