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AMERICAN JOURNAL OF ORTHODONTICS AND DENTOFACIAL ORTHOPEDICS (2010)
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Arjun Raj et al.
NATURE (2010)
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Eva Decker et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
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Alain Couvineau et al.
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H Fukushima et al.
JOURNAL OF DENTAL RESEARCH (2005)
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S Duchatelet et al.
HUMAN MOLECULAR GENETICS (2005)
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S Hopyan et al.
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RJ Oostra et al.
VIRCHOWS ARCHIV (2000)