Lv11
30 积分 2025-01-07 加入
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
7小时前
待确认
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
1个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
1个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
3个月前
已关闭
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]
3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
3个月前
已完结
Phenotypes of adults with Fanconi anaemia
3个月前
已完结
Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report
3个月前
已完结
A case of glucokinase maturity-onset diabetes of the young combined with heterozygous lipoprotein lipase deficiency
4个月前
已关闭
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
4个月前
已完结
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