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40 积分 2024-04-19 加入
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
1个月前
已完结
Further supporting SMARCC2‐related neurodevelopmental disorder through exome analysis and reanalysis in two patients
2个月前
已完结
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
3个月前
已完结
Childhood-onset autoimmune cytopenia as the presenting feature of biallelicACP5mutations
4个月前
已完结
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases
4个月前
已完结
Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases
4个月前
已关闭
Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
4个月前
已完结
Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient
4个月前
已完结
Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation
4个月前
已完结
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
4个月前
已完结
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