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30 积分 2026-03-15 加入
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
4天前
已完结
Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice
4天前
已完结
[Genetics of pediatric hearing loss]
5天前
待确认
R17C Mutation in Photoreceptor Disc-Specific Protein, PRCD, Results in Additional Lipidation Altering Protein Stability and Subcellular Localization
6天前
已完结
Prevalence and mode of inheritance of major genetic eye diseases in China
6天前
已完结
Retinitis pigmentosa
6天前
已完结
Retinitis pigmentosa
6天前
已完结
Loss of PRCD alters number and packaging density of rhodopsin in rod photoreceptor disc membranes
24天前
已完结
Retinitis pigmentosa
1个月前
已完结
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
1个月前
已完结
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