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Found 2 results
Filters: Author is Rossignol, Sylvie  [Clear All Filters]
2014
Demars J, Shmela MEnnuri, Khan AWaheed, et al. Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. J Med Genet. 2014;51(8):502-11. doi:10.1136/jmedgenet-2014-102368.
2011
Demars J, Rossignol S, Netchine I, et al. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat. 2011;32(10):1171-82. doi:10.1002/humu.21558.

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