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- Journal Article
- A1
- open access
Karyotype variability and inter-population genomic differences in freshwater ostracods (Crustacea) showing geographical parthenogenesis
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- Journal Article
- A1
- open access
Focus on 16p13.3 Locus in colon cancer
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Characterization of the 12q amplicons in lipomatous soft tissue tumors by multiplex ligation-dependent probe amplification-based copy number analysis
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Redefining the MED13L syndrome
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
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Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges
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Neuroblastoma genetics and phenotype: a tale of heterogeneity
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Chromosomal and microRNA expression patterns reveal biologically distinct subgroups of 11q- neuroblastoma
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Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1
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Smoothing waves in array CGH tumor profiles
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Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles
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Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience
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Aberrant splicing of the PTPRD gene mimics microdeletions identified-at locus this in neuroblastomas