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A Case Report of Clinical Features Analysis of a Novel IKBKG Variant Leading to Anhidrotic Ectodermal Dysplasia and Immunodeficiency
Published 2024-10-01“…罕见病研究…”
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2
The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases
Published 2024-10-01“…罕见病研究…”
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3
NLRP12-Associated Autoinflammatory Disease in Chinese Adult Patients: A Single-Centre Study
Published 2024-10-01“…罕见病研究…”
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4
A Case Report of Multidisciplinary Management of a Patient with Schimke Immuno-Osseous Dysplasia
Published 2024-10-01“…罕见病研究…”
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5
Progress Research in the Immune-Actinopathies and Pathogenic Genes
Published 2024-10-01“…罕见病研究…”
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6
The Current Status and Advance in Treatment of Glycogen Storage Disease Type Ⅰb
Published 2024-10-01“…罕见病研究…”
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7
Clinical Analysis of Four Patients with Schimke Immuno-Osseous Dysplasia and a Literature Review
Published 2024-10-01“…罕见病研究…”
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8
Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations
Published 2024-10-01“…罕见病研究…”
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9
Renal Impairment Associated with Autoinflammatory Diseases
Published 2024-10-01“…罕见病研究…”
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10
A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review
Published 2024-10-01“…罕见病研究…”
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11
Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System
Published 2024-10-01“…罕见病研究…”
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12
Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy
Published 2024-10-01“…罕见病研究…”
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13
Clinical Characteristics of Three Cases with SAMD9/SAMD9L Gene Mutations
Published 2024-10-01“…罕见病研究…”
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14
Informatics Consideration on the Hierarchical System of Rare Diseases Clinical Care in China
Published 2024-10-01“…罕见病研究…”
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15
Reform and Development of Rare Diseases Drug Evaluation and Approval in China
Published 2024-10-01“…罕见病研究…”
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16
Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions
Published 2024-10-01“…罕见病研究…”
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17
A Case Report of Clinical Characteristics of Deficiency of Adenosine Deaminase 2 with Pancytopenia
Published 2024-10-01“…罕见病研究…”
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