Ohno's "peril of hemizygosity" revisited: gene loss, dosage compensation, and mutation.
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Genotype-phenotype correlation in 22q11.2 deletion syndrome.
(42/55)
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Modeling and rescue of the vascular phenotype of Williams-Beuren syndrome in patient induced pluripotent stem cells.
(43/55)
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Tumor development, growth characteristics and spectrum of genetic aberrations in the TH-MYCN mouse model of neuroblastoma.
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
(45/55)
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Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers.
(46/55)
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Kruppel-like factor 2 is a transcriptional regulator of chronic and acute inflammation.
(47/55)
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Gene expression patterns of hemizygous and heterozygous KIT mutations suggest distinct oncogenic pathways: a study in NIH3T3 cell lines and GIST samples.
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