Lv1
78 积分 2023-08-16 加入
Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients
12小时前
待确认
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
8天前
已关闭
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
20天前
已完结
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
22天前
已完结
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships
1个月前
已完结
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations
1个月前
已完结
Mutations in WNT10A are present in more than half of isolated hypodontia cases
1个月前
已完结
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency
2个月前
已完结
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
2个月前
已完结
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