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Number of items: 6.


Bennett, K.; (2009) The use of proteomics and mass spectrometry to investigate the interactions between proteases and protease inhibitors in the skin barrier. Doctoral thesis , UCL (University College London).


Kapoor, R. R; Flanagan, S. E; Fulton, P.; Chakrapani, A.; Chadefaux, B.; Ben-Omran, T.; Banerjee, I.; ... Hussain, K.; + view all (2009) Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. European Journal of Endocrinology , 161 (5) pp. 731-735. 10.1530/EJE-09-0615. Green open access

Kelberman, D.; Rizzoti, K.; Lovell-Badge, R.; Robinson, I. C. A. F.; Dattani, M. T.; (2009) Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews , 30 (7) pp. 790-829. 10.1210/er.2009-0008. Green open access

Köhler, B.; Lin, L.; Mazen, I.; Cetindag, C.; Biebermann, H.; Akkurt, I.; Rossi, R.; ... Achermann, J.C.; + view all (2009) The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. European Journal of Endocrinology , 161 (2) pp. 237-242. 10.1530/EJE-09-0067. Green open access


Metherell, L. A.; Naville, D.; Halaby, G.; Begeot, M.; Huebner, A.; Nurnberg, G.; Nurnberg, P.; ... Clark, A. J. L.; + view all (2009) Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. Journal of Clinical Endocrinology and Metabolism , 94 (10) pp. 3865-3871. 10.1210/jc.2009-0467. Green open access


Pauws, E.; Hoshino, A.; Bentley, L.; Prajapati, S.; Keller, C.; Hammond, P.; Martinez-Barbera, J.-P.; ... Stanier, P.; + view all (2009) Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Human Molecular Genetics , 18 (21) pp. 4171-4179. 10.1093/hmg/ddp368. Green open access

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