Lv5
1080 积分 2025-05-21 加入
Clinical and genetic features of sitosterolemia in Japan
1天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1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
1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
2个月前
已完结
眼皮肤白化病Ⅳ型产前基因诊断及一种MATP基因新突变
2个月前
已完结
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
2个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
3个月前
已完结
1552例重度感音神经性聋患者与SLC26A4基因IVS7—2A>G突变相关的全序列分析
3个月前
已关闭
Hypertension associated with solitary renal cyst; report of two cases
4个月前
已关闭
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
5个月前
已完结
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