Lv11
30 积分 2025-04-29 加入
TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy
6小时前
待确认
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening]
8小时前
已完结
Effect of inbreeding on intellectual disability revisited by trio sequencing
5个月前
已完结
Three new XK alleles; two associated with a McLeod RBC phenotype
5个月前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
5个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
5个月前
已完结
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
6个月前
已完结
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
7个月前
已完结
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency
7个月前
已完结
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