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Number of items: 5.
Idkowiak, Jan and Malunowicz, Ewa M and Dhir, Vivek and Reisch, Nicole and Szarras-Czapnik, Maria and Holmes, Donna M and Shackleton, Cedric H L and Davies, John D and Hughes, Ieuan A and Krone, Nils and Arlt, Wiebke (2010) Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche. The Journal of clinical endocrinology and metabolism, 95 (7). pp. 3418-27. ISSN 1945-7197
Parajes, S. and Loidi, L. and Reisch, N. and Dhir, V. and Rose, I. T. and Hampel, R. and Quinkler, M. and Conway, G. S. and Castro-Feijoo, L. and Araujo-Vilar, D. and Pombo, M. and Dominguez, F. and Williams, E. L. and Cole, T. R. and Kirk, J. M. and Kaminsky, E. and Rumsby, G. and Arlt, Wiebke and Krone, Nils (2010) Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency. Journal of Clinical Endocrinology & Metabolism, 95 (2). p. 779. ISSN 0021-972X
Krone, Nils and Hughes, Beverly and Lavery, Gareth G. and Stewart, P M and Shackleton, Cedric H.L. and Arlt, Wiebke (2010) Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS)star, open. The Journal of Steroid Biochemistry and Molecular Biology.
Arlt, Wiebke and Willis, Debbie S and Wild, Sarah H and Krone, Nils and Doherty, Emma J and Hahner, Stefanie and Han, Thang S and Carroll, Paul V and Conway, G. S. and Rees, D Aled and Stimson, Roland H and Walker, Brian R and Connell, John M C and Ross, Richard J (2010) Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. The Journal of clinical endocrinology and metabolism, 95 (11). pp. 5110-5121. ISSN 1945-7197
Idkowiak, Jan and O'Riordan, Stephen and Reisch, Nicole and Malunowicz, Ewa M and Collins, Felicity and Kerstens, Michiel N and Köhler, Birgit and Graul-Neumann, Luitgard Margarete and Szarras-Czapnik, Maria and Dattani, Mehul and Silink, Martin and Shackleton, Cedric H L and Maiter, Dominique and Krone, Nils and Arlt, Wiebke (2010) Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency. The Journal of clinical endocrinology and metabolism. ISSN 1945-7197