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Results 51 - 60 of 587 for RA
  1. Aromatic l-amino acid decarboxylase deficiency 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... PubMed Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA. Aromatic L-amino acid decarboxylase enzyme activity in ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  2. CHARGE syndrome 
    ... KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  3. Roberts syndrome 
    ... Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  4. Isolated Duane retraction syndrome 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... books/NBK1190/ Citation on PubMed Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence ...
    https://medlineplus.gov/.../isolated-duane-retraction-syndrome - Genetics
  5. PURA syndrome 
    ... RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  6. Mucolipidosis II alpha/beta 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... Epub 2008 Jan 7. Citation on PubMed Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J. ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  7. Feingold syndrome 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  8. X-linked severe combined immunodeficiency 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency ...
    https://medlineplus.gov/...x-linked-severe-combined-immunodeficiency - Genetics
  9. Dilated cardiomyopathy with ataxia syndrome 
    ... PG, Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria ... PubMed Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  10. Megacystis-microcolon-intestinal hypoperistalsis syndrome 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... S; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and ...
    https://medlineplus.gov/...colon-intestinal-hypoperistalsis-syndrome - Genetics
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