Lv23
128 积分 2024-11-22 加入
Diagnostic performance of parathyroid CT and CT-guided targeted parathyroidectomy in MEN1-associated primary hyperparathyroidism
3小时前
已关闭
P5025Structural insights into catecholaminergic polymorphic ventricular tachycardia-associated RyR2 mutant channels using a three-dimensional in silico model
1天前
已完结
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
2天前
已关闭
Long-read Oxford Nanopore sequencing enables rapid, cost-effective, and comprehensive TTR genetic testing for hereditary transthyretin amyloidosis
4天前
已完结
Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program
4天前
已完结
MYBPC3基因G12101A和MYH7基因G15391A突变与肥厚型心肌病临床表型
11天前
已完结
QT interval dynamics and triggers for QT prolongation immediately following cardiac arrest
11天前
已完结
Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome
5个月前
已完结
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
5个月前
已完结
Blended collagenopathy and optic atrophy: a novel phenotype
6个月前
已关闭