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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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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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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
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Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene