Lv1
36 积分 2022-11-21 加入
[Clinical evaluation of a melting curve analysis-based PCR assay for glucose phosphate dehydrogenase gene mutation detection]
18小时前
已完结
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
5天前
已完结
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
5天前
已完结
The clinical and genetic landscape of early-onset thrombophilia in Japan
12天前
已完结
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients
14天前
已完结
Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation
1个月前
已完结
Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation
1个月前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
2个月前
已完结
Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A
10个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
11个月前
已完结
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