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Donald F. Conrad et al.
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Thomas J. Urban et al.
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Kouyuki Hirayasu et al.
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Adaptive evolution of UGT2B17 copy-number variation
Yali Xue et al.
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Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
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Systematic assessment of copy number variant detection via genome-wide SNP genotyping
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
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Jeffrey M. Kidd et al.
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Zhaoshi Jiang et al.
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Jian-Min Chen et al.
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Lisa Edelmann et al.
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Global variation in copy number in the human genome
Richard Redon et al.
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Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: Characterization, ethnic distribution and evolutionary implications
Gregory S. Hageman et al.
ANNALS OF MEDICINE (2006)
A common inversion under selection in Europeans
H Stefansson et al.
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Detection of large-scale variation in the human genome
AJ Iafrate et al.
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A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes
H Innan
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Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
X Estivill et al.
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Recent segmental duplications in the human genome
JA Bailey et al.
SCIENCE (2002)
Molecular characterization of schizophrenia viewed by microarray analysis of gene expression in prefrontal cortex
K Mirnics et al.
NEURON (2000)