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认知障碍疾病基因诊断策略中国专家共识(2025版)
1天前
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认知障碍疾病基因诊断策略中国专家共识(2025版)
11天前
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
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[Expert consensus on the diagnosis and treatment of central precocious puberty(2022)]
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[Experts' consensus on the diagnostic strategies of etiology for intellectual disability or global developmental delay in children]
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Clinic Examination and Gene Diagnosis for a Birt–Hogg–Dubé Syndrome Family With a Novel flcn Frameshift Mutation Causing Nonsense‐Mediated mRNA Degradation
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Landscape of pathogenic mutations in premature ovarian insufficiency
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