Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 5.
C
Carvalho, LR;
Woods, KS;
Mendonca, BB;
Marcal, N;
Zamparini, AL;
Stifani, S;
Brickman, JM;
... Dattani, MT; + view all
(2003)
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.
Journal of Clinical Investigation
, 112
(8)
pp. 1192-1201.
10.1172/JCI18589.
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J
Jackson, RS;
Creemers, JWM;
Farooqi, IS;
Raffin-Sanson, ML;
Varro, A;
Dockray, GJ;
Holst, JJ;
... O'Rahilly, S; + view all
(2003)
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Journal of Clinical Investigation
, 112
(10)
pp. 1550-1560.
10.1172/JCI200318784.
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L
Lemonde, HA;
Custard, EJ;
Bouquet, J;
Duran, M;
Overmars, H;
Scambler, PJ;
Clayton, PT;
(2003)
Mutations in SRD5B1 (AKR1D1), the gene encoding Delta(4)-3-oxosteroid 5 beta-reductase, in hepatitis and liver failure in infancy.
GUT
, 52
(10)
1494 - 1499.
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M
McManus, IC;
Mitchison, HM;
Chung, EM;
Stubbings, GF;
Martin, N;
(2003)
Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact.
BMC Pulmonary Medicine
, 3
, Article 4. 10.1186/1471-2466-3-4.
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O
Ozisik, G;
Mantovani, G;
Achermann, JC;
Persani, L;
Spada, A;
Weiss, J;
Beck-Peccoz, P;
(2003)
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
The Journal of Clinical Endocrinology & Metabolism
, 88
(1)
417 - 423.
10.1210/jc.2002-021034.
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