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
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
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
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
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
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