缩写名/全名 |
ORPHANET J RARE DIS
Orphanet Journal of Rare Diseases |
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ISSN号 | 1750-1172 | ||||||||||||||||||||
研究方向 | 医学-医学:研究与实验 | ||||||||||||||||||||
影响因子 | 2015:3.29, 2016:3.507, 2017:3.607, 2018:3.687, 2019:3.523, | ||||||||||||||||||||
出版国家 | ENGLAND | ||||||||||||||||||||
出版周期 | Irregular | ||||||||||||||||||||
年文章数 | 218 | ||||||||||||||||||||
出版年份 | 2006 | ||||||||||||||||||||
是否OA | Yes | ||||||||||||||||||||
审稿周期(仅供参考) | 偏慢,4-8周 |
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录用比例 | 一般 | ||||||||||||||||||||
投稿链接 | http://www.ojrd.com/manuscript | ||||||||||||||||||||
投稿官网 | http://www.ojrd.com/ | ||||||||||||||||||||
h-index | 87 | ||||||||||||||||||||
CiteScore |
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PubMed Central (PMC)链接 | http://www.ncbi.nlm.nih.gov/nlmcatalog?term=1750-1172%5BISSN%5D | ||||||||||||||||||||
中科院SCI期刊分区 ( 2018年新版本) |
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中科院SCI期刊分区 ( 2020年新版本) |
中国学者近期发表的论文 | |
1. | Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study Author: Yue Song, Zhao Wang, Zengping Hao, Lihong Li, Junli Lu, Hongjun Kang, Yanping Lu, Yanqin You, Lijuan Li, Qingyun Chen, Bo Chen Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1033-5 DOI |
2. | Next generation sequencing identified two novel mutations in <Emphasis Type="Italic">NIPBL</Emphasis> and a frame shift mutation in <Emphasis Type="Italic">CREBBP</Emphasis> in three Chinese children Author: Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1022-8 DOI |
3. | Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients Author: Zhiying Xie, Yue Hou, Meng Yu, Yilin Liu, Yanbin Fan, Wei Zhang, Zhaoxia Wang, Hui Xiong, Yun Yuan Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1021-9 DOI |
4. | Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis Author: Min Li, Ying Zhou, Chaoyang Chen, Ting Yang, Shuang Zhou, Shuqing Chen, Ye Wu, Yimin Cui Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1012-x DOI |
5. | Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort Author: Hao Chen, Xin Li, Xiaoliang Liu, Jian Wang, Zhen Zhang, Jinjin Wu, Meirong Huang, Ying Guo, Fen Li, Xiumin Wang, Lijun Fu Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1010-z DOI |
6. | Primary pulmonary lymphoma in children Author: Xiaohui Wu, Chunju Zhou, Ling Jin, Hui Liu, Jinrong Liu, Shunying Zhao Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-019-1009-5 DOI |
7. | Clinical and positron emission tomography responses to long-term high-dose interferon-α treatment among patients with Erdheim–Chester disease Author: Xin-xin Cao, Na Niu, Jian Sun, Hao Cai, Feng-dan Wang, Yi-ning Wang, Ming-hui Duan, Dao-bin Zhou, Jian Li Journal: Orphanet Journal of Rare Diseases, 2019, Vol.14, , DOI:10.1186/s13023-018-0988-y DOI |
8. | X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males Author: Xiao Zhang, Yanqin Zhang, Yanmei Zhang, Hongbo Gu, Zhe Chen, Lei Ren, Xingxing Lu, Li Chen, Fang Wang, Yuhe Liu, Jie Ding Journal: Orphanet Journal of Rare Diseases, 2018, Vol.13, , DOI:10.1186/s13023-018-0974-4 DOI |
9. | Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases Author: Xiaobei Guo, Keqiang Liu, Yaping Liu, Yusen Situ, Xinlun Tian, Kai-Feng Xu, Xue Zhang Journal: Orphanet Journal of Rare Diseases, 2018, Vol.13, , DOI:10.1186/s13023-018-0968-2 DOI |
10. | Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature Author: Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou, Shuhua Xu, Min Zhu Journal: Orphanet Journal of Rare Diseases, 2018, Vol.13, , DOI:10.1186/s13023-018-0959-3 DOI |
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