日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Correction: Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene

更正:SOX5 变异导致 Lamb-Shaffer 综合征的功能表征及 SOX5 基因变异的文献综述

Wang, Ping; Xie, Hanbing; Xiao, Xiao; Wang, He; Wang, Yan; Liu, Shanling

Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.

对导致 Lamb-Shaffer 综合征的 SOX5 变异体进行功能表征,并对 SOX5 基因变异体进行文献综述

Wang Ping, Xie Hanbing, Xiao Xiao, Wang He, Wang Yan, Liu Shanling

Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report

KAT6A基因变异引起的早发性Arboleda-Tham综合征:病例报告

Chen, Hongbo; Yu, Dan; Liu, Shanling; Xie, Hanbing; Qiao, Lina; Liu, Hanmin; Li, Weiran

Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China

中国西南地区囊性肾病患者的基因诊断和产前诊断

Zhou, Cong; Xiao, Yuanyuan; Xie, Hanbing; Wei, Xing; Wang, Jing

An Integrated Nomogram Combining Deep Learning and Radiomics for Predicting Malignancy of Pulmonary Nodules Using CT-Derived Nodules and Adipose Tissue: A Multicenter Study

结合深度学习和放射组学的综合列线图,利用CT衍生的肺结节和脂肪组织预测肺结节恶性程度:一项多中心研究

Miao, Shidi; Xuan, Qifan; Xie, Hanbing; Jiang, Yuyang; Sun, Mengzhuo; Huang, Wenjuan; Li, Jing; Qi, Hongzhuo; Li, Ao; Wang, Qiujun; Liu, Zengyao; Wang, Ruitao

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

以中药材为生物质碳源合成具有止血作用的碳点

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

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

病例报告:FLT4基因复合杂合变异导致中国某家族发生常染色体隐性遗传性淋巴水肿

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

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

基于NGS的靶向测序在中国西南地区患有眼皮肤白化病的家族中发现了两个新的变异。

Xiao, Yuanyuan; Zhou, Cong; Xie, Hanbing; Huang, Shuang; Wang, Jing; Liu, Shanling

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

同时携带 COL1A2 和 FBN2 基因杂合突变会导致严重的骨骼临床表型:一个受累家族

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

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

通过全外显子组测序在一个患有遗传性多发性外生骨疣的家族中鉴定出一种新的EXT2移码突变。

Yang, Mei; Xie, Hanbing; Xu, Bocheng; Xiang, Qinqin; Wang, He; Hu, Ting; Liu, Shanling