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Results 1 - 10 of 10 for aria syndrome
  1. SALL4 gene 
    ... 2006 Jan 3. Citation on PubMed Paradisi I, Arias S. IVIC syndrome is caused by a c.2607delA mutation in ...
    https://medlineplus.gov/genetics/gene/sall4 - Genetics
  2. Rotor syndrome 
    ... PubMed Central Wolkoff AW, Wolpert E, Pascasio FN, Arias IM. Rotor's syndrome. A distinct inheritable pathophysiologic entity. Am J Med. ...
    https://medlineplus.gov/genetics/condition/rotor-syndrome - Genetics
  3. Smith-Kingsmore syndrome 
    ... for Rare Disorders (NORD) ClinicalTrials.gov SMITH-KINGSMORE SYNDROME; SKS PubMed Gordo G, Tenorio J, Arias P, Santos-Simarro F, Garcia-Minaur S, Moreno ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  4. Simpson-Golabi-Behmel syndrome 
    ... ajmg.a.31822. Citation on PubMed Tenorio J, Arias P, Martinez-Glez V, Santos F, Garcia-Minaur S, Nevado J, Lapunzina P. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  5. Dubin-Johnson syndrome 
    ... 2012 Oct 12. Citation on PubMed Erlinger S, Arias IM, Dhumeaux ... Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. ...
    https://medlineplus.gov/genetics/condition/dubin-johnson-syndrome - Genetics
  6. MTOR gene 
    ... MTOR NCBI Gene ClinVar ... V, Lapunzina P. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clin Genet. ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  7. ATP1A3 gene 
    ... the variant causes the specific features of CAPOS syndrome. AT1A3_HUMAN ATPase, ... Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutierrez- ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  8. Progressive familial intrahepatic cholestasis 
    ... on PubMed Central Harris MJ, Le Couteur DG, Arias IM. Progressive familial intrahepatic cholestasis: genetic disorders of ...
    https://medlineplus.gov/...ressive-familial-intrahepatic-cholestasis - Genetics
  9. X-linked creatine deficiency 
    ... I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  10. SLC6A8 gene 
    ... I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, ...
    https://medlineplus.gov/genetics/gene/slc6a8 - Genetics