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Results 1 - 10 of 286 for Human
  1. ... of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain ... is a type of acquired prion disease in humans that results from eating beef products containing PrPSc ...
  2. ... with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus. Clin Genet. 2008 Apr; ... Ott J, Brissette JL, Christiano AM. Exposing the human nude phenotype. Nature. 1999 Apr 8;398(6727): ...
  3. ... Severe combined immunodeficiency due to absent class II human leukocyte antigens Severe combined immunodeficiency, HLA class II- ...
  4. ... dwarfism Isolated GH deficiency Isolated HGH deficiency Isolated human growth hormone deficiency Isolated somatotropin deficiency Isolated somatotropin ...
  5. ... Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Hum Mol Genet. 1998 Jan;7( ...
  6. ... Mudd SH. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl ... A glycine N-methyltransferase knockout mouse model for humans with deficiency of this enzyme. Transgenic Res. 2006 ...
  7. ... of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56( ... Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct ...
  8. ... T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest. 2002 Oct; ... is associated with severe early-onset obesity in humans. Nature. 1997 Jun 26;387(6636):903-8. ...
  9. ... traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012 Feb;129( ... 966. Citation on PubMed Filler SG. Insights from human studies into the host defense against candidiasis. Cytokine. ...
  10. ... H, Biebermann H, Gruters A. Mutations in the human proopiomelanocortin gene. Ann N Y Acad Sci. 2003 ... red hair pigmentation caused by POMC mutations in humans. Nat Genet. 1998 Jun;19(2):155-7. ...
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