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40 积分 2026-06-16 加入
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study
15小时前
已完结
Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma
15小时前
求助中
Implications of Genetic Testing in Dilated Cardiomyopathy
1个月前
已完结
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy
1个月前
已完结
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
1个月前
已完结
Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum
1个月前
已完结
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort
1个月前
已完结
The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy
1个月前
已完结
Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case
1个月前
已完结
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