Lv1
70 积分 2023-07-14 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
6个月前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
6个月前
已关闭
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
6个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
6个月前
已完结
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study
6个月前
已完结
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations
6个月前
已完结
Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran
6个月前
已完结
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
7个月前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
7个月前
已完结
Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients
7个月前
已完结
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