Lv4
530 积分 2022-11-16 加入
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
30天前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
1个月前
已关闭
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
2个月前
已完结
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION
2个月前
已完结
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy
2个月前
已完结
Autosomal Dominant Macular Degeneration Associated With 208del G Mutation in the FSCN2 Gene
2个月前
已完结
von Willebrand factor A domain containing 8 (VWA8)- associated retinitis pigmentosa: description of a novel case and expansion of the phenotype
2个月前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
2个月前
已完结
A novel small deletion in CWC27 gene associated with CWC27 -related spliceosomeopathy
2个月前
已完结
Further delineation of the CWC27‐associated spliceosomeopathy: Case report and review of the literature
2个月前
已完结
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