Lv6
1610 积分 2022-10-27 加入
The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population
6天前
已完结
The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease
15天前
已完结
von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study
15天前
已完结
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
15天前
已完结
Effect of a novel mutation in 5'-regulatory region of aldose reductase gene on its expression
24天前
已关闭
Heterozygous desmoplakin (DSP) variants presenting with early onset cardiomyopathy and refractory ventricular tachycardia
24天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
29天前
已完结
Newborn screening for inborn errors of metabolism in a northern Chinese population
29天前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
1个月前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
1个月前
已完结
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