Lv4
430 积分 2023-09-13 加入
Recurrent duplications of 17q12 associated with variable phenotypes
1天前
已完结
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
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