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Results: 1-8 |
Results: 8
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3
Authors: Roscioli, T Flanagan, S Mortimore, RJ Kumar, P Weedon, D Masel, J Lewandowski, R Hyland, V Glass, IA
Citation: T. Roscioli et al., Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3, AM J MED G, 101(3), 2001, pp. 187-194
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1molecular analysis
Authors: Klingberg, S Mortimore, R Parkes, J Chick, JED Clague, AE Murrell, D Weedon, D Glass, IA
Citation: S. Klingberg et al., Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1molecular analysis, PRENAT DIAG, 20(8), 2000, pp. 618-622
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature
Authors: Roscioli, T Flanagan, S Kumar, P Masel, J Gattas, M Hyland, VJ Glass, IA
Citation: T. Roscioli et al., Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature, AM J MED G, 93(1), 2000, pp. 22-28
Mild phenotype in two siblings with distal monosomy 12p13.31 -> pter
Authors: Glass, IA Trenholme, A Mildenhall, L Bailey, RJ Cotter, PD
Citation: Ia. Glass et al., Mild phenotype in two siblings with distal monosomy 12p13.31 -> pter, CLIN GENET, 57(5), 2000, pp. 401-405
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation
Authors: De Siervi, A Rossetti, MV Parera, VE Astrin, KH Aizencang, GI Glass, IA Batlle, AMD Desnick, RJ
Citation: A. De Siervi et al., Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founderof the common G111R mutation, AM J MED G, 86(4), 1999, pp. 366-375
Low maternal serum oestriol at mid-trimester may indicate a fetal disorderof cholesterol biosynthesis
Authors: Craig, JE Savage, V Cowley, D Clague, A Glass, IA
Citation: Je. Craig et al., Low maternal serum oestriol at mid-trimester may indicate a fetal disorderof cholesterol biosynthesis, AUST NZ J O, 39(2), 1999, pp. 249-251
Molecular genetics of congenital erythropoietic porphyria
Authors: Desnick, RJ Glass, IA Xu, WM Solis, C Astrin, KH
Citation: Rj. Desnick et al., Molecular genetics of congenital erythropoietic porphyria, SEM LIV DIS, 18(1), 1998, pp. 77-84
Risultati: 1-8 |