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International Journal of Neonatal Screening|December 24, 2025
Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of ExperienceXuefang Jia, Ting Xie, Xiang Jiang, et al.Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|October 8, 2022
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screeningTing Xie, Minyi Tan, Xiang Jiang, et al.Current Gene Therapy|March 7, 2022
AAV9-coGLB1 Improves Lysosomal Storage and Rescues Central Nervous System Inflammation in a Mutant Mouse Model of GM1 GangliosidosisSichi Liu, Wenhao Ma, Yuyu Feng, et al.Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|September 6, 2014
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]Jipeng Zheng, Yonglan Huang, Xiaoyuan Zhao, et al.Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|January 27, 2015
[A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts]Yonglan Huang, Jipeng Zheng, Ting Xie, et al.International Journal of Neonatal Screening|September 22, 2025
Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass SpectrometryChengfang Tang, Minyi Tan, Yanna Cai, et al.The International Journal of Neuroscience|July 13, 2013
Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depressionJunhui Guo, Zhongchun Liu, Hong Dai, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2019
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong ChinaChengfang Tang, Sichi Liu, Meigui Wu, et al.Neuroscience Letters|January 15, 2017
Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosisWen Zhang, Zhizi Zhou, Xiuzhen Li, et al.International Journal of Neonatal Screening|December 27, 2024
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in ChinaLiang Ye, Yinhong Zhang, Jizhen Feng, et al.Pageof 6