Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis‐van Creveld syndrome

por Zhuang, Jianlong, Liu, Shufen, Wang, Junyu, Chen, Yu'e, Zhang, Hegan, Jiang, Yuying, Wang, Gaoxiong, Chen, Chunnuan
Publicado 2023

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

por Chen, Yu'e, Xie, Yingjun, Jiang, Yuying, Luo, Qi, Shi, Lijing, Zeng, Shuhong, Zhuang, Jianlong, Lyu, Guorong
Publicado 2021

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

por Zhuang, Jianlong, Chen, Chunnuan, Wang, Yuanbai, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Xie, Yingjun, Wang, Gaoxiong
Publicado 2022

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

por Zhuang, Jianlong, Luo, Qi, Xie, Meihua, Chen, Yu’e, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Chen, Chunnuan
Publicado 2022

Catalytic Degradation of Triphenylmethane Dyes with an Iron Porphyrin Complex as a Cytochrome P450 Model

por Lu, Xiaoyan, Che, Qiman, Niu, Xinkai, Zhang, Yilin, Chen, Yu’e, Han, Qing, Li, Miaoqing, Wang, Shuang, Lan, Jihong
Publicado 2023

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

por Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu’e, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Chen, Xinying, Xie, Yingjun, Wang, Gaoxiong
Publicado 2022

Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

por Zhuang, Jianlong, Chen, Chunnuan, Chen, Yu'e, Luo, Qi, Wang, Yuanbai, Jiang, Yuying, Zeng, Shuhong, Xie, Yingjun, Chen, Dongmei
Publicado 2022

Effect of different application duration of a venous foot pump on prevention of venous thromboembolism after hip and knee arthroplasty: a multicenter prospective clinical trial

por Gu, Siqi, Chen, Yu-e, Lei, Mingxing, Li, Jiahui, Li, Wanying, Zhang, Meihong, Zhu, Hongxia, Ma, Mengying, Kong, Dan, Gao, Yuan
Publicado 2023

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

por Zhuang, Jianlong, Wang, Junyu, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Chen, Xinying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Publicado 2022