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Nuo Si

Chinese Academy of Medical Sciences and Peking Union Medical College

H指数:13

被引数:879

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Advances in in vitro modeling of skeletal muscle injury, dysfunction, and repair: From conventional cultures to functional microphysiological systems

体外骨骼肌损伤、功能障碍和修复建模的进展：从传统培养到功能性微生理系统

Journal of Tissue Engineering

IF7

2026-10-210

PRE

In Vitro Skin Models for Pigmentary Disorders: From Reconstructed Tissues to Skin-on-a-Chip Platforms

体外皮肤模型用于色素障碍：从重建组织到芯片皮肤平台

Regenerative Biomaterials

IF8.1

2026-08-050

OAAI

Next-generation skin wound healing related disease models with integration of immune cells

下一代皮肤伤口愈合相关疾病模型与免疫细胞的整合

IF0

2026-04-080

OA

Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia

非复发性的4p16.1染色体重复，涉及影响患者孤立性双侧小耳畸形的神经嵴发育的顺式调控元件。

IF3.6

2025-10-270

PRE

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review

一种新型TP63错义突变在SUMO化基序中导致孤立性分裂手/足畸形4：一个家系报告和文献综述

MOLECULAR GENETICS & GENOMIC MEDICINE

IF1.6

2025-09-181

OAAI

A novel variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation

家族性鳃-眼-面综合征中TFAP2A的一个新变异：来自结构生物信息学和分子动力学模拟的见解

Genes & Diseases

IF9.4

2025-04-150

OAAI

Engineering of tissue in microphysiological systems demonstrated by modelling skeletal muscle

微生理系统中的组织工程：以骨骼肌建模为例

REGENERATIVE BIOMATERIALS

IF8.1

2025-01-011

OA

Genetic and clinical characterization of familial renal glucosuria

家族性肾性糖尿的遗传和临床特征

CLINICAL KIDNEY JOURNAL

IF4.6

2023-10-173

OAAI

Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

FRONTIERS OF MEDICINE

IF3.5

2023-07-293

PRE

Clinical and genetic findings in patients with congenital cataract and heart diseases

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-05-315

OAAI

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2020-06-1714

OAAI

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression

FRONTIERS OF MEDICINE

IF3.5

2019-12-2820

PREAI

A Novel COL4A5 Splicing Mutation Causes Skipping of Exon 14 in a Chinese Family with Alport Syndrome

KIDNEY DISEASES

IF3.1

2019-10-226

OAAI

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

GENETICS IN MEDICINE

IF6.2

2019-07-0163

OAAI

Liu, Jiaqi; Wu, Nan; Yang, Nan; Takeda, Kazuki; Chen, Weisheng; Li, Weiyu; Du, Renqian; Sen Liu; Zhou, Yangzhong; Zhang, Ling; Liu, Zhenlei; Zuo, Yuzhi; Zhao, Sen; Blank, Robert; Pehlivan, Davut; Dong, Shuangshuang; Zhang, Jianguo; Shen, Jianxiong; Si, Nuo; Wang, Yipeng; Liu, Gang; Li, Shugang; Zhao, Yanxue; Zhao, Hong; Chen, Yixin; Zhao, Yu; Song, Xiaofei; Hu, Jianhua; Lin, Mao; Tian, Ye; Yuan, Bo; Yu, Keyi; Niu, Yuchen; Yu, Bin; Li, Xiaoxin; Chen, Jia; Yan, Zihui; Zhu, Qiankun; Meng, Xiaolu; Chen, Xiaoli; Su, Jianzhong; Zhao, Xiuli; Wang, Xiaoyue; Ming, Yue; Li, Xiao; Raggio, Cathleen L.; Zhang, Baozhong; Weng, Xisheng; Zhang, Shuyang; Zhang, Xue; Watanabe, Kota; Matsumoto, Morio; Jin, Li; Shen, Yiping; Sobreira, Nara L.; Posey, Jennifer E.; Giampietro, Philip F.; Valle, David; Liu, Pengfei; Wu, Zhihong; Ikegawa, Shiro; Lupski, James R.; Zhang, Feng; Qiu, Guixing; Kawakami, Noriaki; Kotani, Toshiaki; Sudo, Hideki; Yonezawa, Ikuho; Uno, Koki; Taneichi, Hiroshi; Watanabe, Kei; Minami, Shohei; Shigematsu, Hideki; Sugawara, Ryo; Taniguchi, Yuki; Ootomo, Nao

A 105kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2019-04-294

OAAI

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

使用下一代半导体测序技术对遗传性心肌病进行分子分析

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2018-08-3017

OAAI

17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

17 p13.3中国长骨缺乏症手足畸形家庭的基因组重排: 表型明显变异的复杂重复报告

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-07-038

OAAI

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome

CLINICA CHIMICA ACTA

IF2.9

2017-11-0119

PREAI

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

CHINESE MEDICAL JOURNAL

IF7.3

2017-10-202

OAAI

Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy

CHINESE MEDICAL JOURNAL

IF7.3

2015-08-205

OAAI