Lv11
100 积分 2024-08-06 加入
The analysis of the breakpoint of large rearrangements of LDLR gene in a Taiwanese cohort of patients with familial hypercholesterolemia
2小时前
待确认
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
7天前
已完结
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
10天前
已完结
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan
27天前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
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
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
1个月前
已完结
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis
2个月前
已关闭
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients
2个月前
已完结
The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism
2个月前
已完结
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