Lv1
80 积分 2025-03-20 加入
TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases
9小时前
待确认
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
9小时前
已关闭
Perinatal lethal Gaucher disease: A case report and review of literature
1个月前
已完结
Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease
1个月前
已完结
Six New Gaucher Disease Mutations
1个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
1个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
1个月前
已完结
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
1个月前
已完结
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