Lv11
40 积分 2021-07-09 加入
Diminished GALNS activity in induced pluripotent stem cells of mucopolysaccharidosis IVA caused by compound p. S162Y and p. C165F mutation
15天前
已完结
GALNSmutations in Indian patients with mucopolysaccharidosis IVA
15天前
已完结
DNA‐Binding domain mutations confer severe outcome at an early age among STAT1 gain‐of‐function patients
2个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes
2个月前
已完结
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
3个月前
已完结
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
3个月前
已完结
Hearing Features and Cochlear Implantation Outcomes in Patients With PathogenicMYO15AVariants: a Multicenter Observational Study
4个月前
已完结
Molecular defects in haemophilia B: detection by direct restriction enzyme analysis
4个月前
已完结
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