Search Results - Xiufang Zhi
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1
Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein by Meifang Lei, Yaqiong Cui, Yaqiong Cui, Zhaoying Dong, Xiufang Zhi, Xiufang Zhi, Jianbo Shu, Jianbo Shu, Chunquan Cai, Chunquan Cai, Dong Li
Published 2022Call Number: Loading…Connect to this object online.
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2
Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene by Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang
Published 2022Call Number: Loading…Connect to this object online.
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3
Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family by Dandan Yan, Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jie Zheng, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai, Chunquan Cai
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4
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III by Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu
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5
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report by Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai
Published 2019Call Number: Loading…Connect to this object online.
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6
What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report by Chunyu Gu, Xiaowei Lu, Jinhui Ma, Linjie Pu, Xiufang Zhi, Jianbo Shu, Dong Li, Chunquan Cai
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7
Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes by Xiaofang Chen, Xiaofang Chen, Jia Fu, Jia Fu, Ying Qian, Ying Qian, Xiufang Zhi, Xiufang Zhi, Linjie Pu, Linjie Pu, Chunyu Gu, Chunyu Gu, Jianbo Shu, Jianbo Shu, Jianbo Shu, Ling Lv, Ling Lv, Chunquan Cai, Chunquan Cai, Chunquan Cai
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8
Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant by Jianbo Shu, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jing Chen, Jing Chen, Meifang Lei, Meifang Lei, Jie Zheng, Jie Zheng, Wenchao Sheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Dong Li, Chunquan Cai, Chunquan Cai, Chunquan Cai, Chunquan Cai
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