Lv51
1142 积分 2024-06-13 加入
Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain
2天前
求助中
Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
14天前
已完结
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
14天前
已完结
Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations
15天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
15天前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
23天前
已完结
Impaired cell surface expression of GLP1R variants determines T2D and obesity risk in humans
28天前
已完结
Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos
1个月前
已完结
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
1个月前
已完结
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