Lv11
38 积分 2024-12-07 加入
Molecular characterization of familial hypercholesterolemia in Spain
2小时前
待确认
Familial Hypercholesterolemia
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
3个月前
已完结
Genetic Aspects of Necrobiotic Xanthogranuloma
3个月前
已完结
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
3个月前
已完结
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis
6个月前
已完结
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes
7个月前
已完结
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia
10个月前
已完结
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