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460 积分 2024-10-28 加入
Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning
3小时前
待确认
Molecular Basis of Sarcomeric Variants and the Modifying Role of Non-sarcomeric Genes in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
3天前
求助中
[Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia]
4天前
已完结
P190 Dramatic improvement of scoliosis in a patient with DOK7-related congenital myasthenic syndrome treated with ephedrine
4天前
已完结
Novel PLEC variants associated with infantile cholestasis
10天前
已完结
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China
11天前
已完结
Clinical and genetic characteristics of CSF1R-related leukoencephalopathy: a retrospective analysis of three cases
11天前
已完结
Early Onset Dementia: Experience from Thailand
11天前
已完结
CSF1R-related disorder: A clinical, imaging and genetic profile review
11天前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
17天前
已完结
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