Lv23
200 积分 2023-05-22 加入
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
2小时前
待确认
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1天前
已完结
Outcomes of allogeneic hematopoietic stem cell transplantation for primary hemophagocytic lymphohistiocytosis in adults
2天前
已完结
IVD基因复合杂合变异导致异戊酸血症一例
14天前
已完结
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation
25天前
已完结
35个肝豆状核变性家系 ATP7B基因的突变分析
1个月前
已完结
Nucleoporin-associated steroid-resistant nephrotic syndrome
1个月前
已完结
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
1个月前
已完结
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
1个月前
已完结
Mutation analysis of genes associated with inherited retinal dystrophies in 257 patients with glaucoma
1个月前
已关闭
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