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Intractable and Rare Diseases Research

IF1.6
论文数11
被引数882
期刊论文 11
发表时间
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AI-driven enhancements in rare disease diagnosis and support system optimizationAI驱动的罕见病诊断和支持系统优化
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteWang, Xin; He, Da; Jin, Chunlin
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Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine先天性及遗传性肠病研究进展：从分子机制到精准医学
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IF1.6
delete2025-10-01
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deleteYang, Lichao; Wang, Yu; Yuan, Lianwen; Tang, Wei
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A scoping review of dietary interventions to treat obesity among Prader-Willi syndrome individuals对治疗普拉德-威利综合征个体肥胖的饮食干预进行范围综述
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteAman, Marwa; Hamid, Haslina Abdul; Rajikan, Roslee
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Factors associated with diagnostic delays in Peruvian patients with rare diseases与秘鲁罕见病患者诊断延迟相关的因素
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteSolis, Araceli Margot Falen; Barriga, Hugo Hernan Abarca
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Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China迟发性维生素B12缺乏症（cobalamin C deficiency）的临床与遗传特征：一项在中国北方的多中心研究
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteZhang, Han; Wei, Yanping; Sun, Yuan; Zhang, Yuan; Wang, Zhaoxia; Zou, Hui; Da, Yuwei; Zhao, Zhe; Zhang, Zaiqiang; Wu, Guode; Zhao, Weili; Tian, Cong; Yan, Chuanzhu; Wang, Chaodong; Zhao, Yuying
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Characteristics of rare diseases cases: A summary analysis of hospitalized patients at a hospital in Western China from 2015 to 2023罕见病病例的特征：2015年至2023年西部某医院住院患者总结分析
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteWang, Qi; Guo, Liang; Yang, Yan; He, Jin
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Mitochondrial DNA A3243G variant: Current perspectives and clinical implications线粒体DNA A3243G变异：当前观点和临床意义
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteChu, Kuan-Yu
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Clinical and genetic study of a family with epidermolysis bullosa simplex caused by a novel KRT5 gene mutation c.987C>G (p.Asn329Lys)由新型KRT5基因突变c.987C>G (p.Asn329Lys)引起的单纯性大疱性表皮松解症家系的临床与遗传学研究
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IF1.6
delete2025-10-01
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deleteZhang, Ruohan; Chen, Xu; Wang, Zhenying; Xu, Chao; Li, Shenhao
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Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case儿科黏多糖贮积症IVA型的呼吸和心脏并发症早期筛查：一例病例的启示
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IF1.6
delete2025-10-01
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deleteShu, Haiyan; Shang, Xiaohong; Sun, Yan; Li, Guimei; Chen, Chen; Yang, Jianmei
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Challenges in Japan's dual systems of support for pediatric and adult intractable diseases日本针对儿童及成人难治性疾病双重支持体系面临的挑战
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2025-10-01
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deleteKarako, Kenji; Song, Peipei
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Anterior cervical discectomy and fusion without plate (ACDFWP) versus anterior cervical disc arthroplasty (ACDA) for cervical spondylosis: A meta-analysis and literature review颈前路无钢板椎间盘切除融合术 (ACDFWP) 与颈前路椎间盘置换术 (ACDA) 治疗颈椎病的meta分析及文献复习
deleteINTRACTABLE & RARE DISEASES RESEARCH
IF1.6
delete2022-08-31
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deletePeng, Jiajie; Li, Sihan; Lin, Xiangying; Zhong, Degui; Zheng, Rong; Huang, Minghan; Li, Pengfei; Song, Hongmei; Asakawa, Tetsuya
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