Lv11
20 积分 2025-02-09 加入
Calibration and refinement of ACMG/AMP criteria for variant classification with BayesQuantify
6小时前
求助中
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
10小时前
求助中
340PHigh prevalence of GAA c.[752C>T;761C>T] complicates high-risk screening for late-onset Pompe disease in east Asian populations
4天前
求助中
Return of genetic research results in 21,532 individuals with autism
24天前
已完结
Comprehensive genetic analysis and genotype–phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome
24天前
已完结
Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia
28天前
已完结
Acute myocardial infarction in a 25-year-old woman with sitosterolemia
1个月前
已完结
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
1个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
1个月前
已完结
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy
1个月前
已完结
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