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of 5
pro vyhledávání: '"Eric Crossley"'
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 62-69 (2020)
Abstract Amino acid analysis is central to newborn screening and the investigation of inborn errors of metabolism. Ion‐exchange chromatography with ninhydrin derivatization remains the reference method for quantitative amino acid analysis but offer
Externí odkaz:
https://doaj.org/article/3f29d667c7e14b378d8e0bb24bcb8bff
Autor:
Chao Xing, Luis A. Umaña, Donnice Michel, Crescenda L. Uhles, Jason Y. Park, Julia Kozlitina, Judy Fan, Angela E. Scheuerle, Jenny Thies, Christine Quinn, Callie Hornbuckle, Garrett Gotway, Eric Crossley
Publikováno v:
Clinical Chemistry. 66:199-206
BACKGROUND Exome sequencing has become a commonly used clinical diagnostic test. Multiple studies have examined the diagnostic utility and individual laboratory performance of exome testing; however, no previous study has surveyed and compared the da
Publikováno v:
JIMD Reports
JIMD Reports, Vol 51, Iss 1, Pp 62-69 (2020)
JIMD Reports, Vol 51, Iss 1, Pp 62-69 (2020)
Amino acid analysis is central to newborn screening and the investigation of inborn errors of metabolism. Ion‐exchange chromatography with ninhydrin derivatization remains the reference method for quantitative amino acid analysis but offers slow ch
Autor:
Midori Mitui, Jennifer Wagenfuehr, Khushbu Patel, Eric Londin, Jing Xu, Eric Crossley, Jason Y. Park
Publikováno v:
The journal of applied laboratory medicine. 6(4)
Background Control charting is routine in the quality assurance of traditional clinical laboratory testing. Genomic tests are not typically managed by control charting. We examined control charting to monitor the performance of a clinical next-genera
Publikováno v:
American Journal of Clinical Pathology. 143:A024-A024