Author: "Yu, Yongguo" / Journal: orphanet journal of rare diseases - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Yu, Yongguo"' showing total 3 results

Start Over Author "Yu, Yongguo" Journal orphanet journal of rare diseases

3 results on '"Yu, Yongguo"'

1. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Author: Liang, Lili, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Ye, Jun, Zhang, Huiwen, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Yu, Yongguo, Gu, Xuefan, and Han, Lianshu
Published: 2021
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2. A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Author: Xu, Na, Lv, Hui, Yang, Tingting, Du, Xiujuan, Sun, Yu, Xiao, Bing, Fan, Yanjie, Luo, Xiaomei, Zhan, Yongkun, Wang, Lili, Li, Fei, and Yu, Yongguo
Published: 2020
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3. Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

Author: Dai, Mengyao, Xiao, Bing, Zhang, Huiwen, Ye, Jun, Qiu, Wenjuan, Zhu, Hong, Wang, Lei, Liang, Lili, Zhan, Xia, Ji, Wenjun, Wang, Yu, Yu, Yongguo, Gu, Xuefan, and Han, Lianshu
Published: 2020
Full Text: View/download PDF

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