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38 积分 2021-01-10 加入
Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations
19天前
已完结
GREGoR: accelerating genomics for rare diseases
2个月前
已完结
Small nuclear RNA genes in Mendelian disorders
3个月前
已完结
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
4个月前
已完结
Exome sequencing reveals PPEF2 variant associated with high myopia
6个月前
已完结
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
6个月前
已完结
Multiple Polypi (Œdematous Fibromata) of the Middle Third of the Œsophagus
7个月前
已完结
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa
7个月前
已完结
LRP2 is a potential molecular target for nonsyndromic pathological myopia
8个月前
已完结
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene
8个月前
已完结
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