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Wei Zhou et al.
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Jakob Grove et al.
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Emmanuel Candes et al.
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Impairment of social behaviors in Arhgef10 knockout mice
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Christopher P. Nelson et al.
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Tychele N. Turner et al.
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Silvia De Rubeis et al.
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Zehra Agha et al.
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Bahram Namjou et al.
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Ece D. Gamsiz et al.
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Sequence Kernel Association Test for Quantitative Traits in Family Samples
Han Chen et al.
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Rare Variant Analysis for Family-Based Design
Gourab De et al.
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Jillian P. Casey et al.
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Olivier Delaneau et al.
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Julie Gauthier et al.
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E. Maestrini et al.
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Nan M. Laird et al.
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Hyung-Goo Kim et al.
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Peter Szatmari et al.
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NM Laird et al.
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J Marchini et al.
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Quantifying heterogeneity in a meta-analysis
JPT Higgins et al.
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Evidence supporting WNT2 as an autism susceptibility gene
TH Wassink 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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