Lv4
404 积分 2024-10-16 加入
Ten novel RB1 gene mutations in patients with retinoblastoma
13小时前
求助中
[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]
13小时前
求助中
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
25天前
已关闭
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
25天前
已完结
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients
1个月前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
1个月前
已完结
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience
1个月前
已完结
Feasibility of whole-exome sequencing in fine-needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations
1个月前
已完结
Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo
1个月前
已完结
Activation of cryptic donor splice site due to an exonic MYPN variant in congenital myopathy
2个月前
已完结
皖公网安备34019202002308
