Lv1
10 积分 2025-12-27 加入
Targeted next-generation sequencing assay for detection of mutations in primary myopathies
1天前
待确认
[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly]
7天前
已完结
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
7天前
已完结
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
8天前
已完结
Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management
17天前
已完结
Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management
17天前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
21天前
已完结
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
27天前
已完结
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
28天前
已完结
Loss-of-function mutations in FREM2 disrupt eye morphogenesis
1个月前
已完结
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