Lv51
1040 积分 2025-05-21 加入
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
1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
1个月前
已完结
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
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
1个月前
已关闭
Hypertension associated with solitary renal cyst; report of two cases
2个月前
已关闭
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
3个月前
已完结
二例先天性肌强直的CLCNl基因突变研究
3个月前
已完结
黏多糖贮积症Ⅲ型的鉴别诊断与产前诊断
3个月前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
4个月前
已完结
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