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J. L. Neul et al.
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Elisa Scala et al.
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Simon A. Hardwick et al.
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Le Jian et al.
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A. Rogier T. Donders et al.
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Sarah Ager et al.
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HL Archer et al.
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CL Laurvick et al.
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A Erlandson et al.
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S Fyfe et al.
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J Christodoulou et al.
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Describing the phenotype in Rett syndrome using a population database
L Colvin et al.
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MD Shahbazian et al.
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IM Buyse et al.
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