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Santhosh Girirajan et al.
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Joep de Ligt et al.
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Michael E. Talkowski et al.
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Pengfei Liu et al.
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Evolving applications of microarray analysis in prenatal diagnosis
Melissa S. Savage et al.
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Axel M. Hillmer et al.
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Koichiro Inaki et al.
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Wigard P. Kloosterman et al.
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Ryan E. Mills et al.
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Gregory M. Cooper et al.
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David T. Miller et al.
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Jia-Chi Wang et al.
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Wei Chen et al.
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Origins and functional impact of copy number variation in the human genome
Donald F. Conrad et al.
NATURE (2010)
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Ron Hochstenbach et al.
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Balanced translocations in mental retardation
Geert Vandeweyer et al.
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Jeffrey M. Kidd et al.
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FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality
J. A. Fantes et al.
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MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
Mitch McVey et al.
TRENDS IN GENETICS (2008)
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd et al.
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Jan O. Korbel et al.
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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Stephaine Rigaud et al.
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Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Anita Rauch et al.
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American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
LG Shaffer
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Detection of large-scale variation in the human genome
AJ Iafrate et al.
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Molecular karyotyping using an SNP array for genomewide genotyping
A Rauch et al.
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Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia
JK Millar et al.
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Disruption of two novel genes by a translocation co-segregating with schizophrenia
JK Millar et al.
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The mammalian Odz gene family: Homologs of a Drosophila pair-rule gene with expression implying distinct yet overlapping developmental roles
T Ben-Zur et al.
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