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Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

Proof-of-Principle Rapid Noninvasive Prenatal Diagnosis of Autosomal Recessive Founder Mutations

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive […]

Article
Sep 30, 2015
  • Metabolic Disorders
  • Reproductive Genetics
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Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR

Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more […]

Article
Mar 23, 2015
  • Metabolic Disorders
  • Reproductive Genetics
  • NGS
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A Novel Mutation Causing 17-β-Hydroxysteroid

This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the HSD17B3 gene that has not been previously […]

Article
Feb 28, 2015
  • Reproductive Genetics
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