A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. حسب Walker, A, Chelly, J, Love, DR, Brush, Y, Récan, D, Chaussain, J, Oley, C, Connor, J, Yates, J, Price, D

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. حسب Wilson, L, Leverton, K, Oude Luttikhuis, M, Oley, C, Flint, J, Wolstenholme, J, Duckett, D, Barrow, M, Leonard, J, Read, A

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. حسب Jenkins, D, Baynam, G, De Catte, L, Elcioglu, N, Gabbett, M, Hudgins, L, Hurst, J, Jehee, F, Oley, C, Wilkie, A

Inherited neuromuscular junction disorders: Genotype phenotype correlations حسب Vogt, J, Morgan, N, Harrison, B, Rehal, P, Brueton, L, McKeown, C, Oley, C, Beeson, D, MacDonald, F, Maher, E

How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum حسب 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