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40 积分 2024-04-19 加入
Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
1个月前
已完结
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
2个月前
已完结
Childhood-onset autoimmune cytopenia as the presenting feature of biallelicACP5mutations
2个月前
已完结
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases
2个月前
已完结
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases
2个月前
已关闭
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
2个月前
已完结
Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient
2个月前
已完结
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
2个月前
已完结
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
2个月前
已完结
A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus
2个月前
已完结
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