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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage
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Genome-wide copy number variation scan identifies complement component C4 as novel susceptibility gene for Crohn's disease
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
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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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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients
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Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
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Array comparative genomic hybridization in male infertility
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17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
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4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome