Lv1
46 积分 2022-11-21 加入
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
8小时前
待确认
Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up
25天前
已完结
[Clinical evaluation of a melting curve analysis-based PCR assay for glucose phosphate dehydrogenase gene mutation detection]
1个月前
已完结
Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance
1个月前
已完结
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
1个月前
已完结
The clinical and genetic landscape of early-onset thrombophilia in Japan
1个月前
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
1个月前
已完结
Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation
3个月前
已完结
Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation
3个月前
已完结
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
4个月前
已完结
皖公网安备34019202002308
