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Translational Pediatrics|April 15, 2026
Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective studyGuling Qian, Rulai Yang, Xinwen Huang, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|November 14, 2015
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotypeFan Tong, Rulai Yang, Fang Hong, et al.Molecular Genetics and Metabolism Reports|February 20, 2026
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD)GuLing Qian, Chen Liu, YanHua Xu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 13, 2017
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]Ting Zhang, Fang Hong, Guling Qian, et al.Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|November 21, 2023
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screeningZhanming Zhang, Fan Tong, Chi Chen, et al.Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|January 5, 2020
[Screening for hereditary tyrosinemia and genotype analysis in newborns]Fan Tong, Rulai Yang, Chang Liu, et al.Pageof 1