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15 results on '"Alexander Bisignano"'

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2. Technical Performance of a 455-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights

4. Identification of a Novel APOB Mutation in a Patient with Lifelong Hypercholesterolemia

5. Clinical Utility of Expanded Pan Dyslipidemia and Statin-Induced Myopathy Genetic Testing

6. Past performance of assisted reproduction technologies as a model to predict future progress: a proposed addendum to Moore’s law

7. Retracted: Validation of a multiplex genotyping platform using a novel genomic database approach

8. A comprehensive genetic assessment of male and female infertility using next-generation sequencing

9. To test or not to test? variable spectrum mutations (VSMS) in high impact diseases identified in 3,208 clinical samples screened via an expanded carrier screening platform

14. Going beyond the guidelines: a call for expanded carrier screen based on an analysis of 3,208 clinical samples

15. An analysis of comprehensive carrier screening results for 1000 clinical samples: the importance of transparent disease classification & criteria for selection

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