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Evans syndrome
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- ... j.neuron.2007.07.036. Citation on PubMed Evans JC, Frayling TM, Ellard S, Gutowski NJ. Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an ...
- ... PubMed MATRIX METALLOPROTEINASE 14; MMP14 ... MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. Am J Hum Genet. 2012 Sep 7;91( ...
- ... 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 ...
- ... PubMed Central Guernsey DL, Matsuoka M, Jiang H, Evans S, ... gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360- ...
- ... 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 ...
- ... FMO3 NCBI Gene ClinVar ... in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nat Genet. 1997 Dec;17(4):491-4. ...
- ... EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer ... syndrome through CoQ10 biosynthesis disruption. J Clin Invest. 2013 ...
- ... 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 ...
- ... 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. ...
- ... immunohistochemistry as a screening tool in Muir-Torre syndrome. Mod Pathol. ... Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de ...