Lv24
168 积分 2025-08-06 加入
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
23小时前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1天前
求助中
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1天前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1天前
已完结
Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex
1天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
2天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
2天前
已完结
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center
17天前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
17天前
已完结
[Genetic testing and prenatal diagnosis of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy]
19天前
已完结
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