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1.
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Eur J Med Genet
; 62(8): 103647, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31026593
2.
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
J Pediatr Endocrinol Metab
; 30(9): 979-988, 2017 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28771436
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