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Results 21 - 30 of 587 for RA
  1. Noonan syndrome 
    ... for making proteins that are important in the RAS/MAPK cell signaling pathway, which is needed for ... to cell signals. This prolonged activation alters normal RAS/MAPK signaling, which disrupts the regulation of cell ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  2. X-linked lymphoproliferative disease 
    ... 10.1097/ACI.0b013e3282f1bad6. Citation on PubMed Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, ... PubMed or Free article on PubMed Central Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
  3. Familial hypercholesterolemia 
    ... Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS. Familial hypercholesterolaemia. Nat Rev ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/.../condition/familial-hypercholesterolemia - Genetics
  4. Pyruvate dehydrogenase deficiency 
    ... E1-BETA DEFICIENCY; PDHBD PubMed Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase E3 binding protein deficiency. ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  5. Tyrosine hydroxylase deficiency 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... Naumann M, Steenbergen-Spanjers GC, Strassburg HM, Wevers RA. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa- ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  6. Cutis laxa 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  7. SLC4A1-associated distal renal tubular acidosis 
    ... PT, Li J, Du K, Lukacs GL, Reithmeier RA. Dominant and recessive distal renal tubular acidosis mutations ... S, Udomchaiprasertkul W, Khoprasert S, Li J, Reithmeier RA, Yenchitsomanus PT. Impaired trafficking and intracellular retention of ...
    https://medlineplus.gov/...-associated-distal-renal-tubular-acidosis - Genetics
  8. Familial hemophagocytic lymphohistiocytosis 
    ... annurev-med-041610-134208. Citation on PubMed Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/...milial-hemophagocytic-lymphohistiocytosis - Genetics
  9. Type 2 diabetes 
    ... DK, Saramies J, Scott J, Scott LJ, Scott RA, Segre AV, Sehmi J, Sennblad B, Shah N, ... HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, ...
    https://medlineplus.gov/genetics/condition/type-2-diabetes - Genetics
  10. Lowe syndrome 
    ... IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal ... PubMed or Free article on PubMed Central Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. 2001 Jul ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
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