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ENEURO (2016)
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Martin Kircher et al.
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Genevieve S. Griffiths et al.
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Andrea L. Marat et al.
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Ute Moog et al.
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Akira Matsuno et al.
MEDICAL MOLECULAR MORPHOLOGY (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
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Liang Cheng Li et al.
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Rania Kairouz-Wahbe et al.
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Kouichi Mizuno et al.
TRAFFIC (2007)
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A Imai et al.
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Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons
K Del Villar et al.
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Antisense abrogation of DENN expression induces apoptosis of leukemia cells in vitro, causes tumor regression in vivo and alters the transcription of genes involved in apoptosis and the cell cycle
KM Lim et al.
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YW Jan et al.
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JM de Pereda et al.
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EV Efimova et al.
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J Miyoshi et al.
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A Caballero-Benítez et al.
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K Yamaguchi et al.
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C Zhao et al.
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M Tanaka et al.
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