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Results: 1-10 |
Results: 10
Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?
Authors: Rumsby, G Sharma, A Cregeen, DP Solomon, LR
Citation: G. Rumsby et al., Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?, NEPH DIAL T, 16(8), 2001, pp. 1697-1699
Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia
Authors: Masturzo, B Hyett, JA Kalache, KD Rumsby, G Jauniaux, E Rodeck, CH
Citation: B. Masturzo et al., Increased nuchal translucency as a prenatal manifestation of congenital adrenal hyperplasia, PRENAT DIAG, 21(4), 2001, pp. 314-316
Biochemical and genetic diagnosis of the primary hyperoxalurias: A review
Authors: Rumsby, G
Citation: G. Rumsby, Biochemical and genetic diagnosis of the primary hyperoxalurias: A review, MOL UROL, 4(4), 2000, pp. 349-353
Identification and expression of a cDNA for human glycolate oxidase
Authors: Williams, E Cregeen, D Rumsby, G
Citation: E. Williams et al., Identification and expression of a cDNA for human glycolate oxidase, BBA-GENE ST, 1493(1-2), 2000, pp. 246-248
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Authors: Reardon, W Smith, A Honour, JW Hindmarsh, P Das, D Rumsby, G Nelson, I Malcolm, S Ades, L Sillence, D Kumar, D DeLozier-Blanchet, C McKee, S Kelly, T McKeehan, WL Baraitser, M Winter, RM
Citation: W. Reardon et al., Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?, J MED GENET, 37(1), 2000, pp. 26-32
Recent developments in our understanding of primary hyperoxaluria type 2
Authors: Cregeen, DP Rumsby, G
Citation: Dp. Cregeen et G. Rumsby, Recent developments in our understanding of primary hyperoxaluria type 2, J AM S NEPH, 10, 1999, pp. S348-S350
Isoelectric focusing of native urinary uromodulin (Tamm-Horsfall protein) shows no physicochemical differences between stone formers and non-stone formers
Authors: Trewick, AL Rumsby, G
Citation: Al. Trewick et G. Rumsby, Isoelectric focusing of native urinary uromodulin (Tamm-Horsfall protein) shows no physicochemical differences between stone formers and non-stone formers, UROL RES, 27(4), 1999, pp. 250-254
Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase
Authors: Rumsby, G Cregeen, DP
Citation: G. Rumsby et Dp. Cregeen, Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase, BBA-GENE ST, 1446(3), 1999, pp. 383-388
Treatment of achondroplasia with growth hormone: Six years of experience
Authors: Ramaswami, U Rumsby, G Spoudeas, HA Hindmarsh, PC Brook, CGD
Citation: U. Ramaswami et al., Treatment of achondroplasia with growth hormone: Six years of experience, PEDIAT RES, 46(4), 1999, pp. 435-439
Single-strand conformation polymorphism analysis for the detection of mutations in the CYP11B1 gene
Authors: Rumsby, G
Citation: G. Rumsby, Single-strand conformation polymorphism analysis for the detection of mutations in the CYP11B1 gene, J CLIN END, 84(12), 1999, pp. 4749-4749
Risultati: 1-10 |