Lv2
190 积分 2025-12-22 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
5天前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
10天前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
12天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
15天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
1个月前
已关闭
Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia
1个月前
已完结
A 4‐bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients
1个月前
已完结
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients
1个月前
已关闭
Genotype and phenotype of children with DEPDC5 gene variants related epilepsy
1个月前
已完结
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
1个月前
已完结
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