Search Results - "Madia, Fabricia Andreia Rosa"
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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Published in Clinics (São Paulo, Brazil) (01-10-2017)“…The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques…”
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Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service
Published in BMC research notes (05-03-2024)“…Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is…”
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Post-mortem cytogenomic investigations in patients with congenital malformations
Published in Experimental and molecular pathology (01-08-2016)“…Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of…”
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