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Results 1 - 10 of 22 for Evans syndrome
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  1. ... PubMed MATRIX METALLOPROTEINASE 14; MMP14 ... MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7;91( ...
  2. ... Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, ... syndrome: natural history. J Am Coll Cardiol. 2005 Mar ...
  3. ... PubMed Central Guernsey DL, Matsuoka M, Jiang H, Evans S, ... gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360- ...
  4. ... twinkle Tests of TWNK PubMed MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3 TWINKLE mtDNA HELICASE; TWNK NCBI Gene ClinVar Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna ...
  5. ... FMO3 NCBI Gene ClinVar ... in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nat Genet. 1997 Dec;17(4):491-4. ...
  6. ... EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer ... syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 ...
  7. ... C, de Roux N. FGFR1 mutations in Kallmann syndrome. Front Horm Res. 2010;39:51-61. doi: 10.1159/000312693. Epub 2010 Apr 8. Citation on PubMed White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw ...
  8. ... Hicks SL, Cohn SL, Cheung NK, Seeger RC, Evans AE, Ikegaki N. The MYCN enigma: ... intestinal atresias in Feingold syndrome. Nat Genet. 2005 May;37(5):465-7. ...
  9. ... S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 ... D, Prescott T, Evans DG. Molecular characterisation of SMARCB1 and NF2 in ...
  10. ... Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, ... the Prospective Lynch Syndrome Database. Genet Med. 2020 Jan;22(1):15- ...
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