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120 积分 2024-01-02 加入
Homozygous autosomal recessive hypercholesterolaemia in a South Asian child presenting with multiple cutaneous xanthomata
2天前
已完结
Rapid Lipid-Lowering Response in Two Cases of Autosomal Recessive Hypercholesterolemia
2天前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
2天前
已完结
Identification of rare and novel PHEX variants in X-linked hypophosphatemia
3天前
已完结
Coffee, Atrial Fibrillation, and Circulating Ceramides in Patients with Chronic Heart Failure
9天前
已完结
From variant to function in human disease genetics
28天前
已完结
Neurofilaments as biomarkers in neurological disorders — towards clinical application
1个月前
已完结
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases
1个月前
已完结
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
1个月前
已完结
Monogenic hypertension-a type of “curable” hypertension
1个月前
已完结
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