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Nuno Saraiva et al.
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Report of a mother and daughter with the 12q14 microdeletion syndrome
Audrey L. Bibb et al.
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Margaret P. Adam et al.
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S. Spengler et al.
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Y. Zhang et al.
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PA James et al.
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J Hellemans et al.
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KA Rauen et al.
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