COMBINED EXOME SEQUENCING AND METABOLOMIC PROFILING IMPROVES SEQUENCE VARIANT INTERPRETATION AND DIAGNOSIS FOR INBORN ERRORS OF METABOLISM.

Alaimo Joseph T.; Hubert Leroy; Dai Hongzheng; Miller Marcus; Xiao Rui; Xia Fan; Bi Weimin; Leduc Magalie; Liu Pengfei; Walkiewicz Magdalena; Sutton V. Reid; Sun Qin; Eng Christine M.; Elsea Sarah H.; Yang Yaping

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COMBINED EXOME SEQUENCING AND METABOLOMIC PROFILING IMPROVES SEQUENCE VARIANT INTERPRETATION AND DIAGNOSIS FOR INBORN ERRORS OF METABOLISM.

机译：结合外序测序和代谢物分析改善了序列变异解释和诊断原始代谢误差。

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《Molecular genetics and metabolism》 |2018年第3期|共2页
作者
Alaimo Joseph T.; Hubert Leroy; Dai Hongzheng; Miller Marcus; Xiao Rui; Xia Fan; Bi Weimin; Leduc Magalie; Liu Pengfei; Walkiewicz Magdalena; Sutton V. Reid; Sun Qin; Eng Christine M.; Elsea Sarah H.; Yang Yaping;
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中图分类内分泌腺疾病及代谢病;
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1. COMBINED EXOME SEQUENCING AND METABOLOMIC PROFILING IMPROVES SEQUENCE VARIANT INTERPRETATION AND DIAGNOSIS FOR INBORN ERRORS OF METABOLISM. [J] . Alaimo Joseph T., Hubert Leroy, Dai Hongzheng, Molecular genetics and metabolism . 2018,第3期

机译：结合外序测序和代谢物分析改善了序列变异解释和诊断原始代谢误差。
2. COMBINING BROAD-SCALE UNTARGETED METABOLOMIC PROFILING AND WHOLE EXOME SEQUENCING TECHNOLOGIES IMPROVES DIAGNOSIS OF INHERITED METABOLIC DISORDERS [J] . Liu Ning, Raina Rohit, Hubert Leroy, Molecular genetics and metabolism . 2018,第3期

机译：结合广泛的未标准化代谢物分析和全外末序列测序技术改善了遗传性代谢障碍的诊断
3. COMBINING BROAD-SCALE UNTARGETED METABOLOMIC PROFILING AND WHOLE EXOME SEQUENCING TECHNOLOGIES IMPROVES DIAGNOSIS OF INHERITED METABOLIC DISORDERS [J] . Liu Ning, Raina Rohit, Hubert Leroy, Molecular genetics and metabolism . 2018,第3期

机译：结合广泛的未标准化代谢物分析和全外末序列测序技术改善了遗传性代谢障碍的诊断
4. A TARGETED METABOLOMICS APPROACH FOR DIAGNOSIS OF INBORN ERRORS OF METABOLISM [C] . Minnie Jacob, Abeer Malkawi, Noor Albast, International Mass Spectrometry Conference . 2018

机译：一种针对代谢诊断原始误差的目标代谢组种方法
5. Statistical Analysis of Genetic Sequence Variants in Whole Exome Sequencing Data from Patients with Prostate Cancer [D] . Ofori-Minta, Kelvin. 2021

机译：从前列腺癌患者的整个外壳测序数据中遗传序列变异的统计分析
6. Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders [O] . Marjan SHAKIBA, Mohammad KERAMATIPOUR 2018

机译：全基因组测序对先天性代谢和神经遗传性疾病错误的诊断作用
7. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates [O] . Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, 2016

机译：阿拉伯联合酋长国先天性代谢异常和其他疾病的全外显子组测序诊断

COMBINED EXOME SEQUENCING AND METABOLOMIC PROFILING IMPROVES SEQUENCE VARIANT INTERPRETATION AND DIAGNOSIS FOR INBORN ERRORS OF METABOLISM.

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