Lv1
10 积分 2023-08-09 加入
A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy
3天前
已完结
Clinical and genetic characteristics of 62 children with mitochondrial epilepsy
3天前
已完结
Phenotype and genotype of twelve Chinese children with mitochondrial DNA depletion syndromes
3天前
已完结
Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency
2个月前
已完结
Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients
2个月前
已完结
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
2个月前
已完结
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
2个月前
已完结
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations
2个月前
已关闭
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations
2个月前
已完结
Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene
5个月前
已完结
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