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50 积分
2025-07-30 加入
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[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]
2小时前
已关闭
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
3天前
已完结
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]
10天前
已关闭
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
11天前
已完结
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
13天前
已完结
[Clinical analysis of 21 cases with short fetal femur in the third trimester]
13天前
已完结
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
14天前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
14天前
已完结
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation
14天前
已完结
[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss]
18天前
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感谢
13天前
上传的Supplementary Table 2;需要Supplementary Table 1
20天前
需要Supplementary Table 1
20天前
有一页只空白页
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点赞
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感谢
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球球附件可以吗
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