Lv1
10 积分 2025-07-21 加入
[Genetic and clinical phenotypic analysis of Usher syndrome-associated gene variants]
1个月前
已完结
Novel progressive rod-cone degeneration mutation causes retinitis pigmentosa
1个月前
已完结
Absence of PRCD Leads to Dysregulation in Lipid Homeostasis Resulting in Disorganization of Photoreceptor Outer Segment Structure
1个月前
已完结
Report of a case with ferredoxin reductase (FDXR) gene variants in a Chinese boy exhibiting hearing loss, visual impairment, and motor retardation
1个月前
已完结
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
1个月前
已完结
The progressive rod–cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway
2个月前
已完结
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans
2个月前
已完结
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families
2个月前
已完结
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
2个月前
已完结
Myopia
6个月前
已完结
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