A novel variant in ALMS1 in a patient with Alström syndrome and prenatal diagnosis for the fetus in the family: A case report and literature review

por Zhou, Cong, Xiao, Yuanyuan, Xie, Hanbing, Liu, Shanling, Wang, Jing
Publicado 2020

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report

por Zhou, Cong, Xiao, Yuanyuan, Xie, Hanbing, Liu, Shanling, Wang, Jing
Publicado 2021

Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family

por Zhou, Cong, Xiao, Yuanyuan, Xie, Hanbing, Wang, Jing, Liu, Shanling
Publicado 2021

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

por Xiao, Yuanyuan, Zhou, Cong, Xie, Hanbing, Huang, Shuang, Wang, Jing, Liu, Shanling
Publicado 2022

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing

por Yang, Mei, Xie, Hanbing, Xu, Bocheng, Xiang, Qinqin, Wang, He, Hu, Ting, Liu, Shanling
Publicado 2021

L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant

por Wang, Ping, Liao, Hong, Wang, Quyou, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Publicado 2021

Case Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese family

por Xiang, Qinqin, Chen, Jing, Xiao, Xiao, Xu, Bocheng, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Publicado 2023

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family

por Chen, Jing, Xiang, Qinqin, Xiao, Xiao, Xu, Bocheng, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Publicado 2022

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

por Zhao, Qianying, Xiang, Qinqin, Tan, Yu, Xiao, Xiao, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Publicado 2022

Synthesis of Carbon Dots with Hemostatic Effects Using Traditional Chinese Medicine as a Biomass Carbon Source

por Han, Bingchen, Shen, Lidan, Xie, Hanbing, Huang, Qi, Zhao, Dan, Huang, Xianju, Chen, Xiao, Li, Jun
Publicado 2023

Suppression of α-methylacyl-coenzyme A racemase by miR200c inhibits prostate adenocarcinoma cell proliferation and migration

por Xie, Hanbing, Nie, Ling, Zhang, Mengni, Su, Zhengzheng, Chen, Xueqin, Xu, Miao, Gong, Jing, Chen, Ni, Zhou, Qiao
Publicado 2020

Ultrasound-guided transmuscular quadratus lumborum block reduced postoperative opioids consumptions in patients after laparoscopic hepatectomy: a three-arm randomized controlled tr...

por Pang, Mengya, Sun, Guoliang, Yao, Weifeng, Zhou, Shaoli, Shen, Ning, Liao, Haofeng, Xie, Hanbing, Gao, Wanling, Ge, Mian
Publicado 2021

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis

por Zhao, Qianying, Xu, Bocheng, Xiang, Qinqin, Tan, Yu, Xie, Hanbing, Gao, Qianqian, Wen, Lingyi, Wang, He, Yang, Mei, Liu, Shanling
Publicado 2022

Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing

por Wang, Jing, Chen, Lin, Zhou, Cong, Wang, Li, Xie, Hanbing, Xiao, Yuanyuan, Yin, Daishu, Zeng, Yang, Tang, Feng, Yang, Yunyuan, Zhu, Hongmei, Chen, Xinlian, Zhu, Qian, Liu, Zhiying, Liu, Hongqian
Publicado 2018