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Similar to the original assumption by de Vries et al.[16], we hypothesized that these phenotypical differences may reflect a difference in the genomic defects underlying the disorder.
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Altogether, these data should now be taken into account in future studies that aim at identifying the genetic defect underlying the ICCA syndrome, by focusing on the 16p11 genomic area corresponding to Variation_7105 and to its surrounding regions.
Array-based comparative genomic hybridization (CGH) and gene expression profiling have become vital techniques for identifying molecular defects underlying genetic diseases.
The molecular defects underlying AS are heterogeneous.
The molecular defects underlying the mutant phenotype was further investigated using mRNA in situ hybridization (ISH).
The scientists are now screening infertile women to see whether Juno defects underlie their condition.
Some of these measurable genomic defects may cause the lethality of Slbp null mutations.
Indeed, the currently accepted model of oncogenesis corresponds to a stepwise accumulation of genomic defects.
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Genetic association studies are central to efforts to identify and characterise genomic variants underlying susceptibility to multifactorial disease.
Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome.
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CEO of Professional Science Editing for Scientists @ prosciediting.com