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40 积分 2024-11-23 加入
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]
1个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
1个月前
已完结
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
1个月前
已完结
Digenic Alport Syndrome
2个月前
已关闭
Digenic Alport Syndrome
2个月前
已完结
Autosomal recessive Alport syndrome
2个月前
已关闭
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
2个月前
已完结
Interpretation of ambiguous TP53 test results: Mosaicism, clonal hematopoiesis, and variants of uncertain significance
2个月前
已完结
Development and external validation of a novel nomogram for screening Chinese Lynch syndrome: based on a multicenter, population study
2个月前
已完结
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