A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

por Zou, Qianqian, Tian, Zhigang, Zheng, Jie, Zhi, Xiufang, Du, Xiaojie, Shu, Jianbo, Cai, Chunquan
Publicado 2019

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

por Wang, Jing, Yu, Yuping, Cai, Chunquan, Zhi, Xiufang, Zhang, Ying, Zhao, Yu, Shu, Jianbo
Publicado 2022

Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein

por Lei, Meifang, Cui, Yaqiong, Dong, Zhaoying, Zhi, Xiufang, Shu, Jianbo, Cai, Chunquan, Li, Dong
Publicado 2022

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

por Gu, Chunyu, Lu, Xiaowei, Ma, Jinhui, Pu, Linjie, Zhi, Xiufang, Shu, Jianbo, Li, Dong, Cai, Chunquan
Publicado 2022

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

por Yan, Dandan, Chen, Shaopei, Cai, Fengying, Shu, Jianbo, Zhi, Xiufang, Zheng, Jie, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Publicado 2022

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

por Shu, Jianbo, Zhi, Xiufang, Chen, Jing, Lei, Meifang, Zheng, Jie, Sheng, Wenchao, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Publicado 2022

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

por Zhi, Xiufang, Ai, Qi, Sheng, Wenchao, Yu, Yuping, Shu, Jianbo, Yu, Changshun, Yu, Xiaoli, Li, Dong, Cai, Chunquan
Publicado 2022

Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene

por Liu, Yan, Sheng, Wenchao, Wu, Jinying, Zheng, Jie, Zhi, Xiufang, Zhang, Shuyue, Gu, Chunyu, Guo, Detong, Wang, Wenhong
Publicado 2022

Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes

por Chen, Xiaofang, Fu, Jia, Qian, Ying, Zhi, Xiufang, Pu, Linjie, Gu, Chunyu, Shu, Jianbo, Lv, Ling, Cai, Chunquan
Publicado 2022

Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria

por Zhang, Mingying, Wang, Xinhui, Wang, Rui, Shu, Jianbo, Zhi, Xiufang, Gu, Chunyu, Pu, Linjie, Cai, Chunquan, Yang, Wei, Lv, Ling
Publicado 2021

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect

por Liu, Yan, Dong, Liang, Zhi, Xiufang, Liu, Yang, Zhao, Linsheng, Xu, Xiaowei, Wang, Lu, Zheng, Jie, Pu, Linjie, Gu, Chunyu, Shu, Jianbo, Cai, Chunquan
Publicado 2022