Lv1
38 积分 2021-01-10 加入
Screening a new set of microhaplotypes in exonic regions for sample identity testing and paternity testing during whole exome sequencing analysis
2天前
已完结
Severe Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations
30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
8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
8个月前
已完结
LRP2 is a potential molecular target for nonsyndromic pathological myopia
8个月前
已完结