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Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.
Tong F, Wang J, Xiao R, Wu BB, Zou CC, Wu DW, Wang H, Zou H, Han LS, Yang L, Zou L, Hei MY, Yang RL, Yuan TM, Wen W, Huang XW, Gu XF, Yang YL, Huang YL, Zhang YJ, Yu YG, Xu ZF, Zhou WH, Zhao ZY. Tong F, et al. Among authors: yang yl, yang l, yang rl. World J Pediatr. 2022 Apr;18(4):235-242. doi: 10.1007/s12519-022-00522-8. Epub 2022 Mar 15. World J Pediatr. 2022. PMID: 35292922 No abstract available.
[Gene mutation analysis in patients with propionic acidemia].
Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF. Hu YH, et al. Among authors: yang yl. Zhonghua Er Ke Za Zhi. 2008 Jun;46(6):416-20. Zhonghua Er Ke Za Zhi. 2008. PMID: 19099776 Chinese.
Novel OCRL mutations in Chinese children with Lowe syndrome.
Zhang YQ, Wang F, Ding J, Yan H, Yang YL. Zhang YQ, et al. Among authors: yang yl. World J Pediatr. 2013 Feb;9(1):53-7. doi: 10.1007/s12519-013-0406-4. Epub 2013 Feb 7. World J Pediatr. 2013. PMID: 23389333
[Expert consensus for the diagnosis and treatment of glutaricacidemia type 1].
Endocrinology, Genetics and Metabolism Group,Pediatric Branch of Chinese Medical Association; Neonatal Screening Group, Specialist Committee for Prevention and Control of Birth Defects Chinese Association of Preventive Medicine; Prevention and Control Committee of Birth Defects, Pediatric Branch of Chinese Medical Association; Han L, Yang Y, Yang R, Chen R, Huang X. Endocrinology, Genetics and Metabolism Group,Pediatric Branch of Chinese Medical Association, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):1-6. doi: 10.3760/cma.j.cn511374-20200705-00495. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33423247 Chinese.
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].
Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health, Chen X, Sun Y, Yang Y, Han L, Huang X. Division Of Genetics And Metabolomics Child Diseases And Health Care Branch Chinese Association For Maternal And Child Health, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):414-418. doi: 10.3760/cma.j.cn511374-20200829-00630. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 33974246 Chinese.
1,823 results