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Page 1
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E. Qiao Y, et al. Hum Mutat. 2014 Jan;35(1):58-62. doi: 10.1002/humu.22465. Hum Mutat. 2014. PMID: 24130152
Genetic dissection of the α-globin super-enhancer in vivo.
Hay D, Hughes JR, Babbs C, Davies JOJ, Graham BJ, Hanssen L, Kassouf MT, Marieke Oudelaar AM, Sharpe JA, Suciu MC, Telenius J, Williams R, Rode C, Li PS, Pennacchio LA, Sloane-Stanley JA, Ayyub H, Butler S, Sauka-Spengler T, Gibbons RJ, Smith AJH, Wood WG, Higgs DR. Hay D, et al. Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4. Nat Genet. 2016. PMID: 27376235 Free PMC article.
19 results