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64 积分 2024-07-04 加入
Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom
15小时前
待确认
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
19小时前
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
19小时前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
1天前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
1天前
已完结
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
12天前
已完结
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
16天前
已完结
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study
20天前
已完结
Hemoglobin Siam ?2 15arg?2: A new ?-chain variant
21天前
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