Lv46
500 积分 2026-01-20 加入
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
21小时前
待确认
Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism
10天前
已完结
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature
21天前
已完结
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
24天前
已完结
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
1个月前
已完结
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
2个月前
已完结
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