Lv619
2800 积分 2023-09-18 加入
Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort
1个月前
已完结
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death
1个月前
已完结
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy
1个月前
已完结
Monosomy 22 mosaicism
1个月前
已完结
A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism
1个月前
已完结
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
3个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
5个月前
已完结
Combined Use of In Silico and In Vitro Splicing Assays for Interpretation of Genomic Variants of Unknown Significance in Cardiomyopathies and Channelopathies
5个月前
已关闭
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
7个月前
已完结
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