Lv4
440 积分 2023-09-13 加入
Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX
1个月前
已关闭
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
1个月前
已完结
Four novel GALC gene mutations in two Chinese patients with Krabbe disease
1个月前
已完结
Bioinformatic Analysis of GJB2 Gene Missense Mutations
2个月前
已完结
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
2个月前
已完结
Identification of new F8 deep intronic variations in patients with haemophilia A
2个月前
已完结
Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A
2个月前
已完结
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
2个月前
已完结
[GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan]
3个月前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
3个月前
已完结
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