Found: 13
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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2006, v. 19, n. 11, p. 1343, doi. 10.1515/jpem.2006.19.11.1343
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- Publication type:
- Article
An Open-Label Acceptability Study of Norditropin SimpleXx - A New Liquid Growth Hormone Formulation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 6, p. 735, doi. 10.1515/jpem.2001.14.6.735
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- Publication type:
- Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215
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- Publication type:
- Article
Requirement for age-specific peak cortisol responses to insulin-induced hypoglycaemia in children.
- Published in:
- European Journal of Endocrinology, 2013, v. 169, n. 2, p. 139, doi. 10.1530/EJE-13-0084
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- Publication type:
- Article
Prevalence of renal malformation in Turner syndrome.
- Published in:
- Pediatric Nephrology, 1996, v. 10, n. 4, p. 498, doi. 10.1007/s004670050148
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- Publication type:
- Article
Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 11, p. 4389, doi. 10.1210/jc.2008-0935
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- Publication type:
- Article
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population.
- Published in:
- 2008
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- Publication type:
- journal article
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
- Published in:
- Clinical Endocrinology, 2009, v. 71, n. 2, p. 171, doi. 10.1111/j.1365-2265.2008.03511.x
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- Publication type:
- Article
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 3, p. 814, doi. 10.1172/JCI60224
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- Publication type:
- Article
Further evidence consistent with Yqh as an indicator of risk of gonadal blastoma in Y-bearing mosaic Turner syndrome.
- Published in:
- Clinical Genetics, 1992, v. 41, n. 1, p. 28, doi. 10.1111/j.1399-0004.1992.tb03624.x
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- Publication type:
- Article
Two Cases of Acute Leukaemia in Pregnancy.
- Published in:
- Acta Haematologica, 1979, v. 61, n. 5, p. 298, doi. 10.1159/000207676
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- Publication type:
- Article
Lack of sensitivity of the 1-μg low-dose ACTH stimulation test in a paediatric population with suboptimal cortisol responses to insulin-induced hypoglycaemia.
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 1, p. 73, doi. 10.1111/j.1365-2265.2012.04474.x
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- Publication type:
- Article
Validation of Continuous Glucose Monitoring in Children and Adolescents With Cystic Fibrosis.
- Published in:
- Diabetes Care, 2009, v. 32, n. 6, p. 1020, doi. 10.2337/dc08-1925
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- Publication type:
- Article