Lv1
10 积分 2025-01-07 加入
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
7天前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
7天前
已完结
Gamma-secretase inhibitors down-regulate the pro-fibrotic Notch signaling pathway in recessive dystrophic epidermolysis bullosa
9天前
已完结
A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?
9天前
已关闭
Identification of heterozygous mutations of ABCC8 gene responsible for maturity-onset diabetes of the young with exome sequencing
1个月前
已完结
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene
1个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
1个月前
已完结
Childhood and adolescent essential thrombocythemia and prefibrotic primary myelofibrosis: insights into diagnosis, outcomes, and treatment from a large Chinese cohort
1个月前
已完结
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
1个月前
已关闭
Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong
1个月前
已关闭
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