Lv22
152 积分 2026-04-22 加入
Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases
1小时前
待确认
Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase
14天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases
20天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases
20天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
29天前
已关闭
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy]
29天前
已完结
Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry
1个月前
已关闭
Molecular analysis of Wilson patients: Direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis
1个月前
已关闭
Genotype–phenotype associations in SCN1A -related epilepsies
1个月前
已完结
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
1个月前
已关闭
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