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Jacob A. S. Vorstman et al.
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Ryan E. Mills et al.
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Antonio M. Persico et al.
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JAS Vorstman et al.
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MWM Veltman et al.
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Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
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B van der Zwaag et al.
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Formin proteins: a domain-based approach
HN Higgs
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S Pellegrin et al.
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A Ponti et al.
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AR Janecke et al.
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M Evangelista et al.
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MM Steele et al.
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The Autism Diagnostic Observation Schedule-Generic: A standard measure of social and communication deficits associated with the spectrum of autism
C Lord et al.
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