Lv4
800 积分 2024-08-07 加入
Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease
1个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
3个月前
已完结
Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant
4个月前
已完结
[Analysis of clinical manifestations and genetic characteristics of a late-onset auditory neuropathy pedigree caused by a mitochondrial
4个月前
已完结
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency]
4个月前
已完结
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy
4个月前
已完结
[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (2) - Sample collection, processing and detection]
5个月前
已完结
[Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities]
5个月前
已完结
Perinatal lethal Gaucher disease: A case report and review of literature
6个月前
已完结
新生儿筛查遗传代谢病诊治规范专家共识
6个月前
已完结
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