Lv1
58 积分 2025-09-28 加入
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
3个月前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
3个月前
已完结
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
4个月前
已完结
[Clinical characteristics and genetic analysis of four children with Rotor syndrome]
5个月前
已完结
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
7个月前
已完结
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations inABCC8
9个月前
已完结
[Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration]
9个月前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
10个月前
已完结
Variants in the Enteric Smooth Muscle Actin γ‐2 Cause Pediatric Intestinal Pseudo‐obstruction in Chinese Patients
10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
11个月前
已完结
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