Lv1
30 积分 2025-01-07 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
3天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
3天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已关闭
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]
2个月前
已完结
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations
2个月前
已完结
Phenotypes of adults with Fanconi anaemia
2个月前
已完结
Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report
2个月前
已完结
A case of glucokinase maturity-onset diabetes of the young combined with heterozygous lipoprotein lipase deficiency
2个月前
已关闭
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
2个月前
已完结
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies
2个月前
已完结
皖公网安备34019202002308
