Browse by UCL Departments and Centres
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Number of items: 5.
F
Fiocco, F.;
(2010)
Identification of novel interacting partners of the
pre-mRNA processing factor 31.
Doctoral thesis , UCL (University College London).
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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.
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K
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Kapoor, R.;
(2010)
Defining genotype-phenotype correlations in children with congenital hyperinsulinism.
Doctoral thesis , UCL (University College London).
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M
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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.
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S
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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.
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