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0 积分 2025-05-13 加入
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
23小时前
待确认
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation
1天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
2天前
已完结
A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria
2天前
已完结
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome
3天前
已关闭
The molecular basis of mucopolysaccharidosis type I in two Thai patients
4天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
4天前
已完结
High prevalence of copy number variations in the Japanese participants with suspected MODY
6天前
已完结
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
8天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
10天前
已完结
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