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Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

机译：基于CAP / ACMG方法的三年经验，用于实验室的外部能力测试计划，为罕见的遗传疾病提供DNA测序

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C. Sue Richards; Glenn E. Palomaki; Felicitas L. Lacbawan; Elaine Lyon; Gerald L. Feldman;
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年度 2013
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1. Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders [J] . RichardsC.S., PalomakiG.E., LacbawanF.L., Genetics in medicine . 2014,第1期

机译：为实验室提供基于CAP / ACMG方法的外部能力测试计划的三年经验，该计划为罕见遗传性疾病提供DNA测序
2. External proficiency testing programmes in laboratory diagnoses of inherited metabolic disorders. [J] . Tan IK, Gajra B, Lim MS Annals of the Academy of Medicine, Singapore . 2006,第10期

机译：用于遗传性代谢疾病的实验室诊断的外部能力测试程序。
3. CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance [J] . Oglesbee Devin, Cowan Tina M., Pasquali Marzia, Genetics in medicine . 2018,第1期

机译：生物化学遗传学实验室的CAP / ACMG能力测试：表现概要
4. Neonatal Screening Test for Inherited Metabolic Disorders by Tandem Mass Spectrometry in Korea : Experience of the Eone Reference Laboratory [C] . Cho Sung Eun, Baik Yoon Suk, Oh Gui Young American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2010

机译：韩国串联质谱法对遗传性代谢障碍的新生儿筛查试验：ENE参考实验室的经验
5. Thermo-responsive N,N-dialkylacrylamide copolymer matrices for microchannel DNA sequencing: Synthesis, characterization, and testing by capillary array electrophoresis. [D] . Buchholz, Brett Allan. 2002

机译：用于微通道DNA测序的热响应性N，N-二烷基丙烯酰胺共聚物基质：毛细管阵列电泳的合成，表征和测试。
6. CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance [O] . Devin Oglesbee, Tina M Cowan, Marzia Pasquali, -1

机译：用于生化遗传实验室的CAP / ACMG能力测试：性能摘要
7. Three-Year Experience of an External Proficiency Testing Survey for Next-Generation Sequencing-Based Testing for Germline Mutation [O] . Moon-Woo Seong, Manjin Kim, Ho-Seob Shin, 2020

机译：下一代测序的基于种系突变测试的外部能力测试调查的三年经验

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

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