Ru-en相关文献与解析，生知库 | 链接生命科学的每一步

Ding, Yu; Zhang, Qianwen; Gao, Shiyang; Li, Juan; Chang, Guoying; Wang, Yirou; Wang, Libo; Li, Xin; Chen, Yao; Yao, Ru-En; Yu, Tingting; Li, Niu; Lou, Dan; Wang, Xiumin

糖尿病

代谢

发表日期：2025

文献求助收藏

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features

Alström综合征：一项针对中国127例患者的横断面随访研究，重点关注其遗传变异谱和心脏特征。

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-025-04139-8

Huang, Yiguo; Wang, Libo; Zhang, Qianwen; Gao, Shiyang; Chang, Guoying; Yu, Tingting; Yao, Ru-En; Ding, Yu; Wang, Xiumin

发表日期：2025

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Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome

病例报告：ARID1B相关Coffin-Siris综合征药物难治性癫痫的外科手术分离治疗

期刊:Epilepsy and Behavior Reports

影响因子:1.5

doi:10.1016/j.ebr.2025.100825

Ye, Xiao-Lai; Wang, Cui-Jing; Yin, Min-Zhi; Yao, Ru-En; Zhou, Ying; Fan, Fo-Yang; Liang, Qin-Chuan

[Clinical features and variant spectrum of FGFR3-related disorders]

[FGFR3相关疾病的临床特征和变异谱]

期刊:Chinese Journal of Contemporary Pediatrics

影响因子:

doi:10.7499/j.issn.1008-8830.2504002

Gu, Shi-Li; Ying, Ling-Wen; Chang, Guo-Ying; Li, Xin; Li, Juan; Ding, Yu; Yao, Ru-En; Yu, Ting-Ting; Wang, Xiu-Min

FGFR3

发表日期：2025

文献求助收藏

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review]

[19p13.3染色体微缺失引起的心面皮肤综合征：病例报告及文献复习]

期刊:Chinese Journal of Contemporary Pediatrics

影响因子:

doi:10.7499/j.issn.1008-8830.2502003

Li, Cui-Yun; Xu, Ying; Yao, Ru-En; Yu, Ying; Chen, Xue-Ting; Li, Wei; Zeng, Hui; Chen, Li-Ting

发表日期：2025

文献求助收藏

Subthalamic nucleus deep brain stimulation in primary Meige syndrome: motor and non-motor outcomes

原发性梅杰综合征的丘脑底核深部脑刺激：运动和非运动功能结果

期刊:European Journal of Neurology

影响因子:3.9

doi:10.1111/ene.16121

Hao, Qing-Pei; Zheng, Wen-Tao; Zhang, Zi-Hao; Liu, Ye-Zu; Ding, Hu; OuYang, Jia; Liu, Zhi; Wu, Guang-Yong; Liu, Ru-En

神经科学

发表日期：2024

文献求助收藏

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

中国患者Bardet-Biedl综合征的分子和表型特征

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-024-03150-9

Gao, Shiyang; Zhang, Qianwen; Ding, Yu; Wang, Libo; Li, Zhiying; Hu, Feihan; Yao, Ru-En; Yu, Tingting; Chang, Guoying; Wang, Xiumin

发表日期：2024

文献求助收藏

Ursolic acid inhibits glioblastoma through suppressing TGFβ-mediated epithelial-mesenchymal transition (EMT) and angiogenesis

熊果酸通过抑制 TGFβ 介导的上皮间质转化 (EMT) 和血管生成来抑制胶质母细胞瘤

期刊:Heliyon

影响因子:3.4

doi:10.1016/j.heliyon.2024.e27722

Bo Hei, Ru-En Liu, Meihua Li

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

糖尿病和WFS1变异患儿的复杂临床表现及RNA测序新见解

期刊:Frontiers in Endocrinology

影响因子:4.6

doi:10.3389/fendo.2023.1066320

Ding, Yu; Li, Zhe; Zhang, Qianwen; Li, Niu; Chang, Guoying; Wang, Yirou; Li, Xin; Li, Juan; Li, Qun; Yao, Ru-En; Li, Xin; Wang, Xiumin

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

中国患者心面皮肤综合征的分子和表型谱

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-023-02878-0

Feng, Biyun; Li, Xin; Zhang, Qianwen; Wang, Yirou; Gu, Shili; Yao, Ru-En; Li, Zhiying; Gao, Shiyang; Chang, Guoying; Li, Qun; Li, Niu; Fu, Lijun; Wang, Jian; Wang, Xiumin

发表日期：2023

文献求助收藏

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children

重点关注与儿童青少年起病型糖尿病相关的罕见变异

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features

Alström综合征：一项针对中国127例患者的横断面随访研究，重点关注其遗传变异谱和心脏特征。

Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome

病例报告：ARID1B相关Coffin-Siris综合征药物难治性癫痫的外科手术分离治疗

[Clinical features and variant spectrum of FGFR3-related disorders]

[FGFR3相关疾病的临床特征和变异谱]

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review]

[19p13.3染色体微缺失引起的心面皮肤综合征：病例报告及文献复习]

Subthalamic nucleus deep brain stimulation in primary Meige syndrome: motor and non-motor outcomes

原发性梅杰综合征的丘脑底核深部脑刺激：运动和非运动功能结果

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

中国患者Bardet-Biedl综合征的分子和表型特征

Ursolic acid inhibits glioblastoma through suppressing TGFβ-mediated epithelial-mesenchymal transition (EMT) and angiogenesis

熊果酸通过抑制 TGFβ 介导的上皮间质转化 (EMT) 和血管生成来抑制胶质母细胞瘤

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

糖尿病和WFS1变异患儿的复杂临床表现及RNA测序新见解

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

中国患者心面皮肤综合征的分子和表型谱