Lv2
108 积分 2023-08-16 加入
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
1天前
待确认
Acute weakness and elevated creatine kinase levels associated with coxsackievirus infection in LAMA2-related muscular dystrophy
8天前
已关闭
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India
8天前
已完结
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
12天前
已完结
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
13天前
已关闭
Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients
15天前
已完结
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family
23天前
已关闭
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
1个月前
已完结
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers
1个月前
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
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