Lv3
330 积分 2024-11-14 加入
Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster
22天前
已完结
Obesity-Associated GNAS Mutations and the Melanocortin Pathway
23天前
已完结
[SOD1 gene mutations in patients with amyotrophic lateral sclerosis: potential for the method of molecular]
30天前
已关闭
Gain-of-function p.F28S variant inRAC3disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
1个月前
已完结
A case of rapidly progressive amyotrophic lateral sclerosis associated with SOD1 mutation (p.D126H variant) following COVID-19 vaccination
1个月前
已关闭
Effect of familial clustering in the genetic screening of 235 French ALS families
1个月前
已完结
The role of N-glycans and the C-terminal loop of the subunit rBAT in the biogenesis of the cystinuria-associated transporter
2个月前
已完结
Clinical and Genetic Analysis of Retinitis Pigmentosa with Primary Angle Closure Glaucoma in the Chinese Population
2个月前
已完结
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation
2个月前
已完结
Genotype-specific development of MEN 2 constituent components in 683 RET carriers
3个月前
已完结
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