Lv45
570 积分 2022-10-31 加入
Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan
10天前
已完结
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
10天前
已完结
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
15天前
已完结
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons
17天前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
18天前
已完结
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
21天前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
23天前
已关闭
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
1个月前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
1个月前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
1个月前
已完结
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