Lv11
60 积分 2025-07-09 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
4小时前
待确认
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
7天前
已完结
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome
7天前
已完结
Six new Gaucher disease mutations
23天前
已完结
Hematologically important mutations: Gaucher disease
23天前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
23天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
23天前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
1个月前
已完结
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
1个月前
已完结
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
2个月前
已完结
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