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88 积分 2025-11-18 加入
Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C
1天前
待确认
Truncating mutations in BBS10 and BBS12 impair proteostasis and ciliary architecture in Bardet-Biedl Syndrome
1天前
已完结
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
1个月前
已完结
IMPG2-Related Maculopathy
1个月前
已完结
Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced 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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