Lv2
168 积分 2025-05-12 加入
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
14小时前
已完结
Trochlear nerve agenesis in a patient with 18q22.2q23 deletion
7天前
已完结
Prenatal diagnostic approaches diagnosed craniosynostosis and identified a novel nonsense variant in SMAD6 in a Chinese fetus
13天前
已完结
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
28天前
已完结
Clinical exome sequencing findings in 1589 patients
1个月前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
1个月前
已完结
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
1个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
1个月前
已完结
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
1个月前
已完结
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