Lv11
80 积分 2025-09-28 加入
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
1小时前
已完结
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations inABCC8
2个月前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
2个月前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
3个月前
已完结
Variants in the Enteric Smooth Muscle Actin γ‐2 Cause Pediatric Intestinal Pseudo‐obstruction in Chinese Patients
3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
3个月前
已完结
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations
3个月前
已完结
AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases
3个月前
已关闭
Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature
4个月前
已完结
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