Lv5
1360 积分 2025-05-21 加入
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience
13天前
已完结
丙酸血症患儿PCCA和PCCB基因突变分析
27天前
已完结
Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2
1个月前
已完结
Clinical and genetic features of sitosterolemia in Japan
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
短肋胸廓发育不良3型两个家系的遗传学分析
3个月前
已完结
海南省新生儿短链酰基辅酶A脱氢酶缺乏症的筛查与随访对新生儿筛查策略的启示
4个月前
已完结
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