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Derek J. C. Tai et al.
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Mykhailo Y. Batiuk et al.
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Timothy P. Rutkowski et al.
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Eilis Hannon et al.
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Xuming Yin et al.
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Maria Sundberg et al.
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V Zerbi et al.
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Jorge Urresti et al.
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Isotta Landi et al.
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ChangHui Pak et al.
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Ryo Saito et al.
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Elyza Kelly et al.
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Themasap A. Khan et al.
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Alicia R. Martin et al.
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Masayuki Baba et al.
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Atsushi Takata et al.
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Erin Flaherty et al.
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Joanna S. Amberger et al.
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John F. Fullard et al.
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Xiang-He Meng et al.
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Nathan G Skene et al.
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Antonio F. Pardinas et al.
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Mari E. K. Niemi et al.
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Amit V. Khera et al.
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David Curtis
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Michael J. Gandal et al.
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Christian R. Marshall et al.
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Jordan P. Hamm et al.
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Leah A. Gates et al.
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Aditi Deshpande et al.
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Maria C. Renner et al.
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Yongchang Chen et al.
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K. E. Tansey et al.
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Andrew E. Jaffe et al.
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Christian Benner et al.
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Mingyan Lin et al.
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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh et al.
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Menachem Fromer et al.
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Giulio Genovese et al.
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Bin Xu et al.
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G. Kirov et al.
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W Spooren et al.
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YH Meng et al.
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PF Sullivan et al.
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T Takeuchi et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2001)
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