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20 积分 2025-01-07 加入
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
18天前
已完结
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
1个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
3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
3个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
5个月前
已关闭
[Tandem mass spectrometry screening and genetic analysis of neonates with Urea cycle disorders]
5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
5个月前
已完结
Phenotypes of adults with Fanconi anaemia
5个月前
已完结
Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report
5个月前
已完结
A case of glucokinase maturity-onset diabetes of the young combined with heterozygous lipoprotein lipase deficiency
5个月前
已关闭
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