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

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines

评估等位基因频率信息:变异注释专家组指南研究

Wang, Xiaoyan; Zhang, Tongmei; Qin, Yayun; Zou, Yongyi; Luo, Haiyan; Li, Haibo; Song, Jieping

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns

利用长读长测序技术对21239名新生儿进行先天性肾上腺皮质增生症的基因特征分析和筛查

Liang, Desheng; Zhu, Min; Liang, Qiaowei; Qiang, Rong; Yu, Lei; Xu, Shiyi; Li, Menglin; Song, Jieping; Zhou, Yulin; He, Xiaoyan; Huang, Yonglan; Jin, Hua; Tan, Jianqiang; Liu, Hui; Xia, Aihua; Liu, Yingdi; Liu, Peisen; Li, Zhuo; Wang, Ruifang; Wang, Dongjuan; Zhang, Ruixue; Pu, Qian; Zhou, Jinfu; Xu, Runhong; Wang, Xudong; Tan, Minyi; Chen, Dayu; Wu, Chaoyan; Cui, Di; Mao, Aiping; Zhou, Wenhao; Qiu, Wenjuan; Wu, Lingqian

Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases

产前诊断胎儿肾脏异常:329例中国病例的回顾性分析

Qin, Yayun; Wang, Bo; Zhu, Yuanyuan; Liu, Lijun; Liu, Nian; Yao, Yanyi; Li, Hui; Xu, Runhong; Zhang, Chengcheng; Song, Jieping

Experimental study on the treatment of norepinephrine transporter-overexpressing pheochromocytomas and paragangliomas: a synthetic lethality strategy combining (131)I-MIBG with PARP inhibitors

去甲肾上腺素转运体过表达嗜铬细胞瘤和副神经节瘤的治疗实验研究:(131)I-MIBG 与 PARP 抑制剂联合应用的合成致死策略

Song, Jieping; Zhang, Lulu; Qiu, Fan; Shi, Xiumin; Tian, Rui; Zhang, Chuan; Li, Xiaoyuan; Wang, Feng

The Predictive Effects of Atherogenic Indices and Remnant Cholesterol on Gestational Diabetes Mellitus Risk

动脉粥样硬化指数和残余胆固醇对妊娠期糖尿病风险的预测作用

Cheng, Yao; Song, Jieping; Zhao, Lei; Yin, Jieyun; Lu, Xinfeng; Zhao, Yun; Sun, Guoqiang

Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing

通过全外显子组测序对128名中国神经发育障碍患者进行基因特征分析

Qin, Yayun; Cao, Huang; Liu, Lijun; Yi, Meiqi; Wang, Ting; Zeng, Ling; Wang, Xiaoyan; Xu, Runhong; Zhang, Chengcheng; Li, Hui; Song, Jieping

Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China

中国苯丙酮尿症患者特殊食品及苯丙氨酸水平的保险报销

Wang, Bo; Xia, Yanzhi; Cheng, Mingyue; Luo, Huili; Xue, Luxi; Gong, Anyue; Liu, Xu; Liao, Gaoqi; Song, Jieping; Ning, Kang

Anlotinib for Metastatic Progressed Pheochromocytoma and Paraganglioma: A Retrospective Study of Real-World Data

安罗替尼治疗转移性进展期嗜铬细胞瘤和副神经节瘤:一项基于真实世界数据的回顾性研究

Tian, Rui; Yao, Xiaochen; Song, Jieping; Wang, Jun; Fu, Jingjing; Shi, Liang; Yu, Fei; Zhang, Pengjun; Zhang, Chuan; Ni, Yudan; Wang, Feng

The value of (68)Ga-PSMA PET/CT in the diagnosis of intracapsular prostate cancer with a poor prognosis

68Ga-PSMA PET/CT在预后不良的包膜内前列腺癌诊断中的价值

Wang, Yajing; Song, Jieping; Yang, Lulu; Li, Wencheng; Wang, Wei; Ji, Aiqing; Wang, Liwei; Wang, Feng

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

320例胎儿鼻骨畸形的产前诊断及结局

Li, Hui; Yao, Yanyi; Zhang, Chengcheng; Qin, Yayun; Zeng, Ling; Song, Jieping; Lu, Li; Wang, Wei; Liu, Lijun