Lv11
70 积分 2025-09-28 加入
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
4小时前
已完结
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
28天前
已完结
[Clinical characteristics and genetic analysis of four children with Rotor syndrome]
2个月前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
4个月前
已完结
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations inABCC8
6个月前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
6个月前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
7个月前
已完结
Variants in the Enteric Smooth Muscle Actin γ‐2 Cause Pediatric Intestinal Pseudo‐obstruction in Chinese Patients
7个月前
已完结
Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): The journey towards appropriate treatment
7个月前
已完结
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations
7个月前
已完结
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