Lv12
40 积分 2023-06-11 加入
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders]
1天前
待确认
Viral‐Mediated Connexin 26 Expression Combined with Dexamethasone Rescues Hearing in a Conditional Gjb2 Null Mice Model
28天前
已完结
OTOF-related gene therapy: a new way but a long road ahead
28天前
已完结
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
1个月前
已完结
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes
1个月前
已完结
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
1个月前
已完结
Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease
1个月前
已完结
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
1个月前
已完结
Comprehensive Proteomic Profiling of Human Myocardium Reveals Signaling Pathways Dysregulated in Hypertrophic Cardiomyopathy
1个月前
已完结
Increase in skeletal muscle extracellular volume as an under-recognised change detected at cardiac MRI in hypertrophic cardiomyopathy
1个月前
已完结
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