Lv11
30 积分 2025-05-19 加入
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
1小时前
待确认
Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia
5小时前
已完结
Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia
5小时前
已完结
Navigating variants of uncertain significance in genetic dyslipidemia: how to assess and counsel patients
18天前
已完结
Evaluation of clinical practice guidelines on treatment of cystic fibrosis: A systematic review
19天前
已完结
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China
1个月前
已完结
Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency
1个月前
已完结
Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China
1个月前
已完结
Rapid response to secukinumab in a 5‐year‐old with deficiency of the interleukin‐36 receptor antagonist (DITRA) with severe scalp and nail involvement
1个月前
已完结
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China
1个月前
已完结
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