Lv3
206 积分 2023-04-17 加入
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families
7小时前
待确认
Splenomegaly and progressive neurologic involvement: Think about Niemann–Pick type C disease
1天前
已完结
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations—A study of six unrelated families from India
1天前
已完结
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing
4天前
已完结
Detecting rare thalassemia in children with anemia using third-generation sequencing
8天前
已关闭
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
10天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
14天前
已完结
Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review
17天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
17天前
已完结
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
18天前
已关闭
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