Lv11
58 积分 2021-01-10 加入
CHST5 gene mutations contribute to high myopia by disrupting collagen fiber organization
3天前
求助中
Mutation spectrum of the APC gene in 83 Korean FAP families
2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
2个月前
已完结
Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations
3个月前
已完结
GREGoR: accelerating genomics for rare diseases
5个月前
已完结
Small nuclear RNA genes in Mendelian disorders
6个月前
已完结
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
6个月前
已完结
Exome sequencing reveals PPEF2 variant associated with high myopia
8个月前
已完结
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
8个月前
已完结
Multiple Polypi (Œdematous Fibromata) of the Middle Third of the Œsophagus
10个月前
已完结
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