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Results 1 - 10 of 77 for arts
  1. Arts syndrome 
    Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected ... they typically have much milder symptoms.Boys with Arts syndrome have profound sensorineural hearing loss, which is ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  2. PRPS1 gene 
    ... gene mutations have been identified in people with Arts syndrome, a disorder that causes serious neurological problems ... milder symptoms.The PRPS1 gene mutations that cause Arts syndrome change single protein building blocks (amino acids) ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  3. ERAP1 gene 
    ... aminopeptidase PILS aminopeptidase regulator of TNFR1 shedding APPILS ARTS-1 ARTS1 ERAAP ERAAP1 ERAP1_HUMAN KIAA0525 PILS- ... Feb;70(2):255-265. doi: 10.1002/art.40369. Epub 2017 Dec 29. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/erap1 - Genetics
  4. CHD7 gene 
    ... Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM. The results of CHD7 analysis in clinically ... Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  5. Distal 18q deletion syndrome 
    ... Kessel AG, Brunner HG, Veltman JA, van Ravenswaaij-Arts CM. Genotype-phenotype mapping of chromosome 18q deletions ... Cremers C, Frijns JP, Smeets D, van Ravenswaaij-Arts C. Congenital aural atresia in 18q deletion or ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  6. CHARGE syndrome 
    ... Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical ... 2007 Feb 14. Citation on PubMed van Ravenswaaij-Arts CM, Hefner M, Blake K, Martin DM. CHD7 ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  7. COL2A1 gene 
    ... May;62(5):1421-30. doi: 10.1002/art.27354. Citation on PubMed Korkko J, Cohn DH, ... Jun;58(6):1701-6. doi: 10.1002/art.23491. Citation on PubMed Tiller GE, Polumbo PA, ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. MEFV gene 
    ... Apr;48(4):1149-55. doi: 10.1002/art.10944. Citation on PubMed Mansfield E, Chae JJ, ... Oct;46(10):2785-93. doi: 10.1002/art.10575. Citation on PubMed Papin S, Cuenin S, ...
    https://medlineplus.gov/genetics/gene/mefv - Genetics
  9. Lyme disease 
    ... Jan;65(1):186-96. doi: 10.1002/art.37732. Citation on PubMed or Free article on ... May;64(5):1497-507. doi: 10.1002/art.34383. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/condition/lyme-disease - Genetics
  10. Tumor necrosis factor receptor-associated periodic syndrome 
    ... Sep;48(9):2632-44. doi: 10.1002/art.11215. Citation on PubMed Greco E, Aita A, ... Aug;54(8):2674-87. doi: 10.1002/art.21964. Citation on PubMed Rezaei N. TNF-receptor- ...
    https://medlineplus.gov/...tor-receptor-associated-periodic-syndrome - Genetics
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