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Number of items: 6.


Fiocco, F.; (2010) Identification of novel interacting partners of the pre-mRNA processing factor 31. Doctoral thesis , UCL (University College London). Green open access

Flanagan, S. E.; Kapoor, R. R.; Mali, G.; Cody, D.; Murphy, N.; Schwahn, B.; Siahanidou, T.; ... Ellard, S.; + view all (2010) Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. European Journal of Endocrinology , 162 (5) pp. 987-992. 10.1530/EJE-09-0861. Green open access

Fratter, C; Gorman, GS; Stewart, JD; Buddles, M; Smith, C; Evans, J; Seller, A; ... Taylor, RW; + view all (2010) The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. NEUROLOGY , 74 (20) 1619 - 1626.


Kapoor, R.; (2010) Defining genotype-phenotype correlations in children with congenital hyperinsulinism. Doctoral thesis , UCL (University College London). Green open access


Mills, P. B.; Footitt, E. J.; Mills, K. A.; Tuschl, K.; Aylett, S.; Varadkar, S.; Hemingway, C.; ... Clayton, P. T.; + view all (2010) Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain , 133 (7) pp. 2148-2159. 10.1093/brain/awq143. Green open access


Sahakitrungruang, T.; Soccio, R. E.; Lang-Muritano, M.; Walker, J. M.; Achermann, J. C.; Miller, W. L.; (2010) Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). Journal of Clinical Endocrinology and Metabolism , 95 (7) pp. 3352-3359. 10.1210/jc.2010-0437. Green open access

This list was generated on Sun May 20 02:14:14 2018 BST.