6q25.1-q25.3 Microdeletion in a Chinese Girl by Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou

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Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report by Dan Huang, Jia Zhao, Fang-Ling Xia, Chao-Chun Zou

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An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis) by Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou

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Report of one case with de novo mutation in TLK2 and literature review by Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou

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Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report by Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou

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Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis) by Shao-Jia Mao, Yu-Mei Zu, Yang-Li Dai, Chao-Chun Zou

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Orthopedic manifestations in children with Prader-Willi syndrome by Miao Miao, Guo-Qiang Zhao, Qiong Zhou, Yun-Qi Chao, Chao-Chun Zou

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Sepsis-induced Pancytopenia in an Adolescent Girl with Thyroid Storm: A Case Report by Qing Zhou, Li-Yong Zhang, Qing-Xian Fu, Chao-Chun Zou, Hui Liu

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Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome by Ying Gao, Li-Li Yang, Yang-Li Dai, Zheng Shen, Qiong Zhou, Chao-Chun Zou

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Thyroid-stimulating hormone induces insulin resistance in adipocytes via endoplasmic reticulum stress by Qing Zhou, Li Yong Zhang, Mei Feng Dai, Zhen Li, Chao Chun Zou, Hui Liu

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The diagnosis and management of mucopolysaccharidosis type II by Shao-Jia Mao, Qing-Qing Chen, Yang-Li Dai, Guan-Ping Dong, Chao-Chun Zou

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The influence of genotype makeup on the effectiveness of growth hormone therapy in children with Prader-Willi syndrome by Qiong Zhou, Yun-qi Chao, Yang-li Dai, Ying Gao, Zheng Shen, Guan-ping Dong, Chao-Chun Zou

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Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature by Hui Wang, Dian Wu, De-Hua Wu, Hong-Juan Tian, Hai-Feng Li, Ke-Wen Jiang, Chao-Chun Zou

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Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review by Wei Tang, Ke‐Mi Wu, Qiong Zhou, Yan‐Fei Tang, Jun‐Fen Fu, Guan‐Ping Dong, Chao‐Chun Zou

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Clinical features associated with maternal uniparental disomy for chromosome 6 by Jing-Wen Li, Yan-Jie Qian, Shao-Jia Mao, Yun-Qi Chao, Yi-Fang Qin, Chen-Xi Hu, Zheng-Lan Li, Chao-Chun Zou

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Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses by Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen, Chao-Chun Zou

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Gene variants and clinical characteristics of children with sitosterolemia by Rui Gu, Hui Wang, Chun-Lin Wang, Mei Lu, Miao Miao, Meng-Na Huang, Yi Chen, Yang-Li Dai, Ming-Qiang Zhu, Qiong Zhou, Chao-Chun Zou

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Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study by Meng-Na Huang, Chen-Cen Wang, Ming-Sheng Ma, Mei-Zhu Chi, Qing Zhou, Li-Hong Jiang, Chun-Lin Wang, Mei Lu, Xiao-Quan Chen, Ya-Ying Cheng, Qing Ke, Da-Yan Wang, Xiao-Xia Qian, Xiao-Ming Ying, Jian-Ping Zhang, Qun-Hua Shen, Li-Fang Liu, Rui Gu, Zhen-Jie Zhang, Jian-Hua Feng, Min Wang, Ming-Qiang Zhu, Ke Huang, Jun-Fen Fu, Chao‑Chun Zou

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