Literature DB >> 28623543

The challenge and promise of rare disease diagnosis in China.

Xin Ni1,2, Tieliu Shi3.   

Abstract

Mesh：

Year:  2017        PMID： 28623543     DOI： 10.1007/s11427-017-9100-1

Source DB:  PubMed          Journal:  Sci China Life Sci        ISSN： 1674-7305            Impact factor:   6.038


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  10 in total

1.  A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.

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Journal:  Interdiscip Sci       Date:  2021-11-09       Impact factor: 2.233

2.  Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.

Authors:  Xiu Zhao; Yanning Song; Shaoke Chen; Xiumin Wang; Feihong Luo; Yu Yang; Linqi Chen; Ruimin Chen; Hui Chen; Zhe Su; Di Wu; Chunxiu Gong
Journal:  Front Pharmacol       Date:  2019-03-15       Impact factor: 5.810

3.  Health service security of patients with 8 certain rare diseases: evidence from China's national system for health service utilization of patients with healthcare insurance.

Authors:  Rui Min; Xiaoyan Zhang; Pengqian Fang; Biyan Wang; He Wang
Journal:  Orphanet J Rare Dis       Date:  2019-08-20       Impact factor: 4.123

4.  Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Authors:  Dong Wang; Min Gao; Kaihui Zhang; Ruifeng Jin; Yuqiang Lv; Yong Liu; Jian Ma; Ya Wan; Zhongtao Gai; Yi Liu
Journal:  Front Pharmacol       Date:  2019-07-25       Impact factor: 5.810

5.  Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Authors:  Yibao Fu; Jinmeng Jia; Lishu Yue; Ruiying Yang; Yongli Guo; Xin Ni; Tieliu Shi
Journal:  Front Pharmacol       Date:  2019-09-13       Impact factor: 5.810

6.  Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Authors:  Hua Li; Fang Fang; Manting Xu; Zhimei Liu; Ji Zhou; Xiaohui Wang; Xiaofei Wang; Tongli Han
Journal:  Front Pharmacol       Date:  2019-12-04       Impact factor: 5.810

7.  Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.

Authors:  Jingru Shi; Meng Ren; Jinmeng Jia; Muxue Tang; Yongli Guo; Xin Ni; Tieliu Shi
Journal:  Front Pharmacol       Date:  2019-10-15       Impact factor: 5.810

8.  eRAM: encyclopedia of rare disease annotations for precision medicine.

Authors:  Jinmeng Jia; Zhongxin An; Yue Ming; Yongli Guo; Wei Li; Yunxiang Liang; Dongming Guo; Xin Li; Jun Tai; Geng Chen; Yaqiong Jin; Zhimei Liu; Xin Ni; Tieliu Shi
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

9.  Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.

Authors:  Beibei Yan; Chao Wang; Kaihui Zhang; Haiyan Zhang; Min Gao; Yuqiang Lv; Xiaoying Li; Yi Liu; Zhongtao Gai
Journal:  Front Genet       Date:  2019-08-22       Impact factor: 4.599

10.  Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.

Authors:  Hui Lin; Jian-Wu Qiu; Yaqub-Muhammad Rauf; Gui-Zhi Lin; Rui Liu; Li-Jing Deng; Mei Deng; Yuan-Zong Song
Journal:  Front Genet       Date:  2019-11-07       Impact factor: 4.599
  10 in total

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