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Results 111 - 120 of 1,114 for RA
  1. Loeys-Dietz syndrome 
    ... Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. TGFbeta receptor mutations impose a strong ... Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas ...
    https://medlineplus.gov/genetics/condition/loeys-dietz-syndrome - Genetics
  2. DBH gene 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van ...
    https://medlineplus.gov/genetics/gene/dbh - Genetics
  3. Aminoacylase 1 deficiency 
    ... S, Calvin J, Hart C, Omran H, Wevers RA. NMR spectroscopy of aminoacylase 1 deficiency, a novel ... Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Mutations in ACY1, the gene encoding ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  4. SMAD4 gene 
    ... Andrabi S, Bekheirnia MR, Robbins-Furman P, Lewis RA, Prior TW, Potocki L. SMAD4 mutation segregating in ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  5. GCDH gene 
    ... B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, ... J, Baric I, Bain MD, Jakobs C, Chalmers RA. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of ...
    https://medlineplus.gov/genetics/gene/gcdh - Genetics
  6. ABCA12 gene 
    ... D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  7. CNGB3 gene 
    ... In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... Jan 15. Citation on PubMed Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsX mutation ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  8. 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
  9. 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
  10. 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
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