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Results 1 - 10 of 238 for Cross syndrome
  1. Blau syndrome 
    ... JI, Foley KP, Bertin J, Wouters CH. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015 Jun;54(6):1008-16. ... the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol ...
    https://medlineplus.gov/genetics/condition/blau-syndrome - Genetics
  2. Lennox-Gastaut syndrome 
    ... 2000.tb00179.x. Citation on PubMed Hancock EC, Cross HH. Treatment of Lennox-Gastaut syndrome. Cochrane Database Syst Rev. 2009 Jul 8;(3): ... 14651858.CD003277.pub2. Citation on PubMed Hancock EC, Cross JH. Treatment of Lennox-Gastaut syndrome. Cochrane Database Syst Rev. 2013 Feb 28;2013( ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  3. TNXB gene 
    ... the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. Citation on PubMed ... of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report ...
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
  4. FGFR1 gene 
    ... 22. Citation on PubMed Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  5. Freeman-Sheldon syndrome 
    ... embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015 Jun 15;24(12):3348-58. doi: 10.1093/hmg/ddv084. Epub 2015 Mar ... of myosin-based Freeman-Sheldon syndrome. Mol Biol Cell. 2019 Jan 1;30(1): ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  6. MYH3 gene 
    ... embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015 Jun 15;24(12):3348-58. doi: 10.1093/hmg/ddv084. Epub 2015 Mar 3. ... RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4: ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  7. Smith-Lemli-Opitz syndrome 
    ... Rare Disorders (NORD) ClinicalTrials.gov SMITH-LEMLI-OPITZ SYNDROME; SLOS PubMed Bianconi SE, Cross JL, Wassif CA, Porter FD. Pathogenesis, Epidemiology, Diagnosis ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  8. Troyer syndrome 
    ... 2002 Jul 22. Citation on PubMed Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Troyer syndrome revisited. A clinical and radiological study of a ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  9. FKBP10 gene 
    ... people with osteogenesis imperfecta type XI and Bruck syndrome 1. As a result, collagen cross-linking is severely impaired: there are very few collagen fibrils in the extracellular matrix, and the network is sparse and ... type XI and Bruck syndrome 1 is unclear. In addition, it is unknown ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  10. ERCC8 gene 
    ... syndrome 1 (classical) Cockayne syndrome 1 protein Cockayne syndrome, type A CSA ERCC8_HUMAN excision repair cross-complementation group 8 excision repair cross-complementing rodent ...
    https://medlineplus.gov/genetics/gene/ercc8 - Genetics
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