Lv4
520 积分 2022-11-16 加入
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population
1个月前
已完结
Refractive Error in Inherited Retinal Disease
2个月前
已完结
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
2个月前
已关闭
ASSOCIATION OF PIGMENTED PARAVENOUS RETINOCHOROIDAL ATROPHY WITH A PATHOGENIC VARIANT IN THE HK1 GENE
2个月前
已完结
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects
2个月前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
3个月前
已完结
Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
4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
5个月前
已完结
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION
5个月前
已完结
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy
5个月前
已完结
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