Showing 1 - 17 results of 17 for search 'Editorial Office of Journal of Rare Diseases', query time: 0.04s Refine Results
  1. 1
    A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency

    A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency by HUANG Xiaomei, LUO Ying, HE Tingyan, XU Yongbin, XIA Yu, YANG Zhi, ZHU Xiaona, HUANG Yanyan, WENG Ruohang, YANG Jun, WANG Linlin

    Published 2024-10-01
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  2. 2
    The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases

    The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases by JIANG Yi, AN Yunfei, ZHAO Xiaodong

    Published 2024-10-01
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  3. 3
    NLRP12-Associated Autoinflammatory Disease in Chinese Adult Patients: A Single-Centre Study

    NLRP12-Associated Autoinflammatory Disease in Chinese Adult Patients: A Single-Centre Study by MIAO Junke, WU Di, SHEN Min

    Published 2024-10-01
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  4. 4
    A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia

    A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia by DING Juan, WANG Wei, XIAO Juan, ZHANG Yan, ZHU Huijuan, ZHANG Wen, GAO Peng, CHEN Limeng, LYU Wei, ZOU Xuan, ZHAO Xiaoyi, SONG Hongmei, MA Mingsheng

    Published 2024-10-01
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  5. 5
    Progress Research in the Immune-Actinopathies and Pathogenic Genes

    Progress Research in the Immune-Actinopathies and Pathogenic Genes by MA Shiyun, ZHOU Lina, AN Yunfei, ZHAO Xiaodong

    Published 2024-10-01
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  6. 6
    The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb

    The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb by JIANG Jingjing, MA Mingsheng

    Published 2024-10-01
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  7. 7
    Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review

    Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review by HAN Lingli, DONG Yajuan, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao

    Published 2024-10-01
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  8. 8
    Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations

    Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations by LI Linpeng, MA Jing, GU Hao, SHU Zhou, MAO Huawei

    Published 2024-10-01
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  9. 9
    Renal Impairment Associated with Autoinflammatory Diseases

    Renal Impairment Associated with Autoinflammatory Diseases by JIAN Shan, WANG Changyan, ZHANG Caihui, SONG Hongmei

    Published 2024-10-01
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  10. 10
    A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review

    A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

    Published 2024-10-01
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  11. 11
    Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System

    Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System by ZHOU Yu, SONG Hongmei

    Published 2024-10-01
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  12. 12
    Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy

    Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy by Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee

    Published 2024-10-01
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  13. 13
    Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations

    Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations by ZHU Ke, SUN Bijun, WANG Wenjie, ZHOU Qinhua, LIU Luyao, HOU Jia, WANG Xiaochuan, SUN Jinqiao

    Published 2024-10-01
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  14. 14
    Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China

    Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China by GONG Mengchun, GUO Yanying, ZHENG Xihong, FAN Junkang, LIU Peng, NIU Ling, YANG Yining, ZOU Xiaoguang

    Published 2024-10-01
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  15. 15
    Reform and Development of Rare Diseases Drug Evaluation and Approval in China

    Reform and Development of Rare Diseases Drug Evaluation and Approval in China by HUANG Guo, YANG Zhimin, TANG Ling, ZHANG Jie, AI Xing, SE RI Geleng, ZHAO Tian

    Published 2024-10-01
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  16. 16
    Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

    Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions by Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases

    Published 2024-10-01
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  17. 17
    A Case Report of Clinical Characteristics of Deficiency of Adenosine Deaminase 2 with Pancytopenia

    A Case Report of Clinical Characteristics of Deficiency of Adenosine Deaminase 2 with Pancytopenia by ZHANG Caihui, LIU Liying, ZHANG Zhenjie, WANG Wei, MA Mingsheng, SONG Hongmei

    Published 2024-10-01
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