Search Results - "Melchior Tellier, Laurent C A"
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Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening
Published in Journal of pediatric endocrinology & metabolism : JPEM (28-08-2017)“…Tandem mass spectrometry (TMS)-based newborn screening has been proven successful as one of the public healthcare programs, although the practicability has not…”
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Journal Article -
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Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform
Published in European journal of medical genetics (01-08-2019)“…Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of miscarriage, improve IVF success rates, and prevent inheritance of…”
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Journal Article