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J.-L. Huret et al.
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Mylene Beri-Dexheimer et al.
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Jacques M. Lignon et al.
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R Benavides-Piccione et al.
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Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome
K Amano et al.
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LE Olson et al.
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I Branchi et al.
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M Dierssen et al.
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A Weise et al.
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V Fotaki et al.
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