Lv11
60 积分 2024-10-28 加入
Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
6天前
已完结
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation
7天前
已关闭
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation
7天前
已关闭
[Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China]
11天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
11天前
已关闭
[Molecular mechanisms of two novel mutations of factor XIII gene resulting in hereditary coagulation deficiency]
11天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
12天前
已完结
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]
13天前
已完结
[Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants]
14天前
已完结
Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7
19天前
已完结
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