Lv41
460 积分 2025-05-21 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已关闭
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
2个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
2个月前
已完结
重视飞秒激光角膜屈光术前Avellino角膜营养不良的临床检查和基因筛查
2个月前
已完结
我国TGFBI基因相关性角膜营养不良的研究现状
2个月前
已完结
Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations
3个月前
已完结
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
3个月前
已完结
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