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Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemia
Author: Lin, Yiming; Zhong, Jinping; Peng, Weilin; Zheng, Faming; Wang, Xudong
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2026; Vol. 12, Issue 1, pp. -. DOI: 10.3390/ijns12010018
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Pathogenic Analysis of Two SLC22A5 Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficienc
Author: Lin, Yiming; Chen, Yanru; Lin, Weihua; Zheng, Faming
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2026; Vol. 12, Issue 1, pp. -. DOI: 10.3390/ijns12010017
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Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficienc
Author: Zhi, Haijuan; Chang, Siyu; Chen, Ting; Liang, Lili; Qiu, Wenjuan; Zhang, Huiwen; Gu, Xuefan; Han, Lianshu
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2025; Vol. 11, Issue 2, pp. -. DOI: 10.3390/ijns11020047
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Newborn Screening for Congenital Heart Disease: A Five-Year Study in Shangha
Author: Tian, Youping; Gu, Qing; Hu, Xiaojing; Ge, Xiaoling; Ma, Xiaojing; Yang, Miao; Jia, Pin; Zhang, Jing; Yang, Lulu; Zhao, Quming; Liu, Fang; Ye, Ming; Yang, Yulin; Huang, Guoying
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2025; Vol. 11, Issue 2, pp. -. DOI: 10.3390/ijns11020038
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Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, Chin
Author: Wang, Xudong; Lu, Xingxiu; Zheng, Faming; Lin, Kun; Liao, Minjuan; Dong, Yi; Chen, Tiantian; He, Ying; Lu, Mei; Chen, Jing; Li, Yanfang; Zhou, Yulin
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2025; Vol. 11, Issue 1, pp. -. DOI: 10.3390/ijns11010022
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The Training and Evaluation of the Dual-Index Screening Method for Neonatal Congenital Heart Disease: A Multi-Center Study in Chin
Author: Huang, Panpan; Gu, Qing; Zhu, Xiaoting; Haq, Ijaz ul; Li, Liling; Hu, Xiaojing; Huang, Guoying
Journal: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. 2025; Vol. 11, Issue 1, pp. -. DOI: 10.3390/ijns11010008
