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30 积分 2026-06-16 加入
Clinical and genetic characterization of a Chinese patient with triple A syndrome and novel compound heterozygous mutations in the AAAS gene
23小时前
待确认
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review
1个月前
已完结
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
1个月前
已完结
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam
1个月前
已完结
Uterine tumour resembling ovarian sex cord tumour (utrosct) associated with ctnnb1, pten and other gene mutations: Expanding the molecular landscape
1个月前
已完结
Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study
2个月前
已完结
Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma
2个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
3个月前
已完结
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy
3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
3个月前
已完结
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