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European Journal of Pediatrics|May 28, 2013
Familial glucocorticoid deficiency: a diagnostic challenge during acute illnessAbdelhadi M Habeb, Claire R Hughes, Rida Al-Arabi, et al.The Journal of Clinical Endocrinology and Metabolism|April 24, 2008
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler populationStephen M P O'Riordan, Sally A Lynch, Peter C Hindmarsh, et al.The Journal of Clinical Endocrinology and Metabolism|February 17, 2012
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W)Serap Turan, Claire Hughes, Zeynep Atay, et al.European Journal of Endocrinology|October 11, 2007
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?Martin O Savage, Cecilia Camacho-Hübner, Alessia David, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|March 9, 2005
Novel growth hormone receptor mutation in a Chinese patient with Laron syndromeHamilton N T Hui, Louise A Metherell, K L Ng, et al.Brain : a Journal of Neurology|November 11, 2003
Coexistent hereditary and inflammatory neuropathyLionel Ginsberg, Omar Malik, Anthony R Kenton, et al.The Journal of Clinical Endocrinology and Metabolism|October 22, 2010
Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivityAndrea Hirsch, Eirini Meimaridou, Monica Fernandez-Cancio, et al.Endocrinology|February 26, 2010
Angiotensin II-induced expression of brain-derived neurotrophic factor in human and rat adrenocortical cellsMária Szekeres, György L Nádasy, Gábor Turu, et al.Hormone Research in Paediatrics|March 2, 2010
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutationHelen L Storr, Louise A Metherell, Renuka Dias, et al.The Journal of Clinical Endocrinology and Metabolism|October 15, 2003
Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populationsLinda B Johnston, Jovanna Dahlgren, Juliane Leger, et al.Pageof 13