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Results 1 - 10 of 1,344 for clin
  1. Autosomal dominant hyper-IgE syndrome 
    ... Coronary artery abnormalities in Hyper-IgE syndrome. J Clin Immunol. 2011 Jun;31(3):338-45. doi: ... of death in hyper-IgE syndrome. J Allergy Clin Immunol. 2007 May;119(5):1234-40. doi: ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  2. 3-beta-hydroxysteroid dehydrogenase deficiency 
    ... for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun;87(6):2611-22. ... HSD3B2 genotype study and not by hormone test. Clin Endocrinol (Oxf). 2003 Mar;58(3):323-31. ...
    https://medlineplus.gov/...a-hydroxysteroid-dehydrogenase-deficiency - Genetics
  3. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome 
    ... cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. doi: ... polyendocrinopathy, enteropathy, X-linked syndrome. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):525-32. doi: ...
    https://medlineplus.gov/...ocrinopathy-enteropathy-x-linked-syndrome - Genetics
  4. Congenital hyperinsulinism 
    ... the diagnosis and management of hyperinsulinemic hypoglycemia. Nat Clin Pract Endocrinol Metab. 2009 Feb;5(2):101-12. doi: 10.1038/ncpendmet1046. Erratum In: Nat Clin Pract Endocrinol Metab. 2009 Mar;5(3):180. ...
    https://medlineplus.gov/.../condition/congenital-hyperinsulinism - Genetics
  5. Chronic granulomatous disease 
    ... Citation on PubMed Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010 Feb;38(1):3- ... with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol. 2008 Feb;126(2):155-64. doi: ...
    https://medlineplus.gov/.../condition/chronic-granulomatous-disease - Genetics
  6. 21-hydroxylase deficiency 
    ... 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab. 2009 May;94(5):1570-8. ... congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009 May;30(2):75-86. ...
    https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency - Genetics
  7. SCN9A gene 
    ... excited to play a role in human epilepsies. Clin Genet. 2010 Apr;77(4):326-8. doi: ... a spectrum of human genetic pain disorders. J Clin Invest. 2007 Dec;117(12):3603-9. doi: ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  8. Primary macronodular adrenal hyperplasia 
    ... frequent cause of primary macronodular adrenal Hyperplasia. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. ... both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2015 Jan;100(1):E119-28. ...
    https://medlineplus.gov/.../primary-macronodular-adrenal-hyperplasia - Genetics
  9. Familial glucocorticoid deficiency 
    ... familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf). 2010 May;72(5):589-94. ... of the receptor to the cell surface. J Clin Endocrinol Metab. 2008 Dec;93(12):4948-54. ...
    https://medlineplus.gov/.../familial-glucocorticoid-deficiency - Genetics
  10. FOXP3 gene 
    ... cell functions in patients with FOXP3 mutations. J Clin Invest. 2006 Jun;116(6):1713-22. doi: ... polyendocrinopathy, enteropathy, X-linked syndrome. Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):525-32. doi: ...
    https://medlineplus.gov/genetics/gene/foxp3 - Genetics
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