Lv71
3290 积分 2021-09-02 加入
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype
3小时前
已完结
Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis
4小时前
已完结
Citrin缺陷导致的新生儿肝内胆汁淤积症家系SLC25A13基因突变研究
5天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
13天前
已完结
Somatic Versus Germline: A Case Series of Three Children With ATM-Mutated Medulloblastoma
18天前
已完结
Beta-myosin Heavy Chain Gene Mutations and Hypertrophic Cardiomyopathy in Austrian Children
18天前
已完结
Detecting pathogenic deep intronic variants in Gitelman syndrome
27天前
已完结
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
29天前
已完结
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
29天前
已关闭
A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family
1个月前
已完结
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