Lv3
378 积分 2024-10-16 加入
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations
12天前
已关闭
Genotype-phenotype pancreatic neuroendocrine tumor relationship in multiple endocrine neoplasia type 1 patients: A 23-year experience at a single institution
29天前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
1个月前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
1个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
2个月前
已完结
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
2个月前
已关闭
Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre
2个月前
已关闭
A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta
2个月前
已关闭
Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm)
3个月前
已完结
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