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Xuelian He

Tongji Medical College

H指数:31

被引数:4,578

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Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients

20例中国患者先天性糖基化障碍的临床与遗传学特征

Orphanet Journal of Rare Diseases

IF3.5

2025-12-230

OAAI

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review

由LPIN2复合杂合突变引起的Majeed综合征的临床和遗传学分析及文献综述

FRONTIERS IN PEDIATRICS

IF2

2025-10-020

OAAI

Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome

MED13L通过转录前体激活对皮层神经发生的调控及其对MED13L综合征的影响

Communications Biology

IF5.1

2025-08-080

OA

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis

临床和功能表征：一种新型TNFRSF9变异导致免疫失调，并具有EBV驱动的淋巴瘤发生的易感性

Frontiers in Immunology

IF5.9

2025-08-060

OA

A novel USP27X missense variant identified in an individual with intellectual disability

在一名智力障碍患者中发现了一种新型的USP27X错义变异。

Journal of Human Genetics

IF2.5

2025-07-020

PRE

Silica-based EGFR-degrading nano-PROTACs for efficient therapy of non-small cell lung cancer

基于二氧化硅的EGFR降解纳米PROTACs用于非小细胞肺癌的高效治疗

EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

IF4.3

2025-05-012

PRE

Identification of a new gain-of-function variant p.N536Y of KCNMA1 associated with PNKD3 in the Chinese population

在中国人群中鉴定出与PNKD3相关的新型增益功能变异p.N536Y of KCNMA1。

ACTA PHYSIOLOGICA

IF5.6

2025-04-010

PRE

Theoretical insight into thermoelectric response of valleytronic semiconductor 1H-TiNBr monolayer

谷电子半导体1H-TiNBr单层的热电响应的理论见解

Nano Materials Science

IF17.9

2025-03-130

OAAI

Thermoelectric Performance of Janus Monolayer ZnGeSTe from First-Principles Based Self-Consistent Transport Theory

JOURNAL OF PHYSICAL CHEMISTRY C

IF3.2

2025-03-010

PRE

Cross-sectional study on the association between serum uric acid levels and non-alcoholic fatty liver disease in an elderly population

SCIENTIFIC REPORTS

IF3.9

2025-02-160

OAAI

Reference intervals of inhibin B in Chinese children on chemiluminescence analyzer

SCIENTIFIC REPORTS

IF3.9

2025-01-140

OAAI

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever

SCIENTIFIC REPORTS

IF3.9

2024-10-161

OAAI

Genome-wide association study of maternal plasma metabolites during pregnancy

IF9

2024-10-012

OAAI

Liu, Siyang; Yao, Jilong; Lin, Liang; Lan, Xianmei; Wu, Linlin; He, Xuelian; Kong, Nannan; Li, Yan; Deng, Yuqing; Xie, Jiansheng; Zhu, Huanhuan; Wu, Xiaoxia; Li, Zilong; Xiong, Likuan; Wang, Yuan; Ren, Jinghui; Qiu, Xuemei; Zhao, Weihua; Gao, Ya; Chen, Yuanqing; Su, Fengxia; Zhou, Yun; Rao, Weiqiao; Zhang, Jing; Hou, Guixue; Huang, Liping; Li, Linxuan; Liu, Xinhong; Nie, Chao; Luo, Liqiong; Zhao, Mei; Liu, Zengyou; Chen, Fang; Lin, Shengmou; Zhao, Lijian; Fu, Qingmei; Jiang, Dan; Yin, Ye; Xu, Xun; Wang, Jian; Yang, Huanming; Wang, Rong; Niu, Jianmin; Wei, Fengxiang; Jin, Xin; Liu, Siqi

Europium-Based Coordination Polymer-Modified Vanadium Sulfide Nanocomposite with High Photothermal Conversion Efficiency as a Powerful Photothermal and Four-Mode Imaging Technique

JOURNAL OF PHYSICAL CHEMISTRY C

IF3.2

2024-05-240

PRE

Copper peroxide and cisplatin co-loaded silica nanoparticles-based trinity strategy for cooperative cuproptosis/chemo/chemodynamic cancer therapy

CHEMICAL ENGINEERING JOURNAL

IF13.2

2024-02-0113

PRE

The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment

NEUROSCIENCE BULLETIN

IF5.8

2023-12-071

PRE

Combined effects of high-fat diet and polystyrene microplastic exposure on microplastic bioaccumulation and lipid metabolism in zebrafish

FISH & SHELLFISH IMMUNOLOGY

IF3.9

2023-06-0117

PRE

Variants in BSN gene associated with epilepsy with favourable outcome

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-12-1214

OAAI

Nanoscale CaO2 materials for synergistic transarterial chemoembolization in a VX2 orthotopic rabbit liver cancer model

ACTA BIOMATERIALIA

IF9.6

2022-12-0121

OAAI

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review

FRONTIERS IN IMMUNOLOGY

IF5.9

2022-09-203

OAAI