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Number of items: 5.


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. Green open access


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. Green open access


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. Green open access


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. Green open access


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. Green open access

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