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Clinica Chimica Acta; International Journal of Clinical Chemistry|June 30, 2023
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in ChinaTing Zhang, Yaping Shen, Yanhua Xu, et al.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.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 6, 2019
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]Fan Tong, Ting Chen, Pingping Jiang, et al.Clinical Laboratory|September 13, 2023
Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal DiseasesShuYuan Xue, JingYing Zhu, HuiYun Zhang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2020
[Identification of a de novo missense variant of ARID1B gene in a child with mental retardation]Ting Zhang, Qian Wu, Jianbin Yang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 29, 2023
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]HanYi Zhao, Duo Zhou, Haixia Miao, et al.Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|December 18, 2023
Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitineDingwen Wu, Rulai Yang, Kexin Fang, et al.Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|November 19, 2020
[Screening and clinical analysis of isovaleric acidemia newborn in Zhejiang province]Zhenzhen Hu, Jianbin Yang, Lingwei Hu, et al.European Journal of Medical Genetics|January 19, 2020
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrumTing Zhang, Qian Wu, Ling Zhu, et al.Pageof 5