Lv71
4680 积分 2023-11-07 加入
[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type II]
1年前
已完结
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
1年前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
1年前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
1年前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
1年前
已完结
Identification and characterization of novel low‐density lipoprotein receptor mutations of familial hypercholesterolaemia patients in Taiwan
1年前
已完结
From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China
1年前
已关闭
From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China
1年前
已完结
ATP7B variant spectrum in a French pediatric Wilson disease cohort
1年前
已完结
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