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of 3
pro vyhledávání: '"Bryce Asay"'
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 63 (2021)
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequenc
Externí odkaz:
https://doaj.org/article/07083d3968ef4992996857e1263c136f
Autor:
Jordan Little, David W. Sant, Warunee Dansithong, Erin L Young, Krystal Y. Chung, Kim Hart, Andreas Rohrwasser, Bryce Asay, Stevie Norcross, Kelly F. Oakeson, Nicole Ruiz-Schultz, Karen Eilbeck
Publikováno v:
Genetics in Medicine. 23:767-776
Purpose Newborn screening disorders increasingly require genetic variant analysis as part of second-tier or confirmatory testing. Sanger sequencing and gene-specific next-generation sequencing (NGS)-based tests, the current methods of choice, are cos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27c2db71e05c1d1b56c071f62f53066
https://doi.org/10.1038/s41436-020-01058-w
https://doi.org/10.1038/s41436-020-01058-w
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 63, p 63 (2021)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bfafdfc067559564cc7ef6faf5d06a2
https://www.mdpi.com/2409-515X/7/4/63
https://www.mdpi.com/2409-515X/7/4/63