Lv3
238 积分 2025-01-19 加入
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
18天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
18天前
已完结
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]
1个月前
已完结
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
1个月前
已关闭
Prenatal diagnosis and genetic analysis: rare familial chromosomal duplications larger than 5 Mb without disease phenotypes
1个月前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
3个月前
已完结
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype
3个月前
已完结
Phenotypic spectrum of variants in the beta-oxidation enoyl-CoA hydratase-1 (ECHS-1) gene
3个月前
已完结
[Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA]
3个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
4个月前
已完结