Lv11
30 积分 2023-11-22 加入
[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency]
2小时前
求助中
[SNP array analysis of three cases with partial 21q trisomy]
1个月前
已完结
[Analysis of six children with 3-methylglutaconic aciduria]
1个月前
已完结
[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1]
1个月前
已完结
[Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene]
2个月前
已完结
[Prenatal diagnosis for hereditary deaf families assisted by genetic testing]
2个月前
已完结
A patient with 13q-syndrome with mild mental retardation and with growth retardation
3个月前
已关闭
Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region
3个月前
已完结
[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus]
4个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
4个月前
已完结
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