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64 积分 2021-01-10 加入
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation
2天前
已完结
Heterozygote loss‐of‐function variants in the LRP5 gene cause familial exudative vitreoretinopathy
15天前
已完结
CHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization
1个月前
已完结
Mutation spectrum of the APC gene in 83 Korean FAP families
3个月前
已完结
Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis
3个月前
已完结
Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations
4个月前
已完结
GREGoR: accelerating genomics for rare diseases
6个月前
已完结
Small nuclear RNA genes in Mendelian disorders
7个月前
已完结
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
8个月前
已完结
Exome sequencing reveals PPEF2 variant associated with high myopia
10个月前
已完结
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