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Rita Cacace et al.
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Jochen Herms et al.
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Monkol Lek et al.
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Jorge J. Palop et al.
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Tobi Van den Bossche et al.
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Lin Li et al.
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Brian J. Wainger et al.
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F. Andrew Ray et al.
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Can Liao et al.
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Bradley T. Hyman et al.
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Juan Zhou et al.
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Christian R. Marshall et al.
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Jinhyun Kim et al.
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L Feuk et al.
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S Engelborghs et al.
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R Rademakers et al.
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BC Dickerson et al.
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L Noé et al.
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ZS Nasreddine et al.
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P Strop et al.
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MS Nadal et al.
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