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Htoo A. Wai et al.
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Eugenie Dionnet et al.
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Naif A. M. Almontashiri et al.
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Junyue Cao et al.
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Sarah E. Brnich et al.
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Anath C. Lionel et al.
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Constance Wells et al.
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Zainab Asad et al.
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W. Gu et al.
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Sue Richards et al.
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C. Enzensberger et al.
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W. S. Layman et al.
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