Yao 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

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

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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

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A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

中国女性原发性纤毛运动障碍合并脑积水患者携带FOXJ1基因新型杂合变异：病例报告及文献复习

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.2235

Gao, Shiyang; Zhang, Qianwen; Feng, Biyun; Gu, Shili; Li, Zhiying; Sun, Lianping; Yao, Ru-En; Yu, Tingting; Ding, Yu; Wang, Xiumin

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

对五名中国常染色体隐性骨硬化症患者进行临床和分子特征分析

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.1815

Liang Huanhuan, Li Niu, Yao Ru-En, Yu Tingting, Ding Lixia, Chen Jing, Wang Jian

骨科研究

发表日期：2021

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]

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

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

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

中国女性原发性纤毛运动障碍合并脑积水患者携带FOXJ1基因新型杂合变异：病例报告及文献复习

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

对五名中国常染色体隐性骨硬化症患者进行临床和分子特征分析