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

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long-Read Sequencing

利用精确的环状共识长读长测序技术检测罕见地中海贫血变异体

Zhou, Xiaoqiang; Chen, Yue; Chen, Shufen; Lian, Jingli; Liu, Yue; Yang, Tingting; Wu, Shuijuan; Liu, Juan; Huang, Xiang; Yang, Xingkun

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7

一例由BBS7基因杂合点变异和涉及BBS7基因的拷贝数变异引起的罕见Bardet-Biedl综合征病例

Yang, Xingkun; Zhou, Xiaoqiang; Zhou, Cheng; Li, Chao; Wu, Shuijuan; Zhou, Yasi; Du, Jiayue; Guo, Xiaoling; Huang, Xiang

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

SOX5基因中的一个错义变异(c.221C>T)与智力障碍有关

Yang, Xiujuan; Gan, Zhongzhi; Guo, Xiaoling; Huang, Xiang; Liu, Juan; Zheng, Yingchun; Zhou, Xiaoqiang; Lian, Jingli; Liu, Yue; Yang, Tingting; Li, Chao; Chen, Fenying; He, Fei; Xu, Xiangmin; Zhou, Yasi; Liu, Qian; Yang, Xingkun; Xiong, Fu

Morphological Study of First Instar Elephant Stomach Bot Fly Larvae (Oestridae: Gasterophilinae: Cobboldia elephantis).

象胃蝇幼虫(Oestridae: Gasterophilinae: Cobboldia elephantis)一龄幼虫的形态学研究

Yang Xingkun, An Zhuowei, Xiong Chaoyong, Tan Shenming, Bao Mingwei, Zhou Fangyi, Liu Meiqin, Yan Liping, Zhang Dong, Pape Thomas

Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features

在无畸形特征的产前病例中,CNV-seq检测到了嵌合型9p四体综合征,而传统核型分析却漏诊了该病例。

Yang, Xingkun; Zhou, Yasi; Zhu, Xiaodan; Xiao, Tingting; Ou, Miaoling; Zhang, Linghua; Huang, Xiang; Guo, Xiaoling; Li, Chao

Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

病例报告:新型CNGA3复合杂合变异导致一个家族三名患者出现全色盲

Zhou, Xiaoqiang; Zhou, Yasi; Wu, Shuijuan; Guo, Xiaoling; Yao, Liangfeng; Yang, Xingkun

High-throughput primer design by scoring in piecewise logistic model for multiple polymerase chain reaction variants

基于分段逻辑模型评分的高通量引物设计,适用于多种聚合酶链式反应变体

Zeng, Huaping; Chen, Kexin; Ma, Chouxian; Zhu, Biyin; Chuan, Jun; Zhang, Shuan; Tang, Lin; Yang, Ting; Sun, Zhaohui; Yang, Xingkun; Wang, Yu

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome

病例报告:一例独特的嵌合型特纳综合征中小型超数标记染色体的基因分析

Li, Chao; Luo, Weiyao; Xiao, Tingting; Yang, Xingkun; Ou, Miaoling; Zhang, Linghua; Huang, Xiang; Zhu, Xiaodan

Integrated miRNA-mRNA Expression Profiles Revealing Key Molecules in Ovarian Cancer Based on Bioinformatics Analysis

基于生物信息学分析的miRNA-mRNA整合表达谱揭示卵巢癌中的关键分子

Li, Chao; Hong, Zhantong; Ou, Miaoling; Zhu, Xiaodan; Zhang, Linghua; Yang, Xingkun

Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia

病例报告:在中国一个患有全面发育迟缓、智力障碍和共济失调的家族中发现一种新的FRMD4A基因复合杂合突变

Pan, Yuhua; Guo, Xiaoling; Zhou, Xiaoqiang; Liu, Yue; Lian, Jingli; Yang, Tingting; Huang, Xiang; He, Fei; Zhang, Jian; Wu, Buling; Xiong, Fu; Yang, Xingkun