Lv41
720 积分 2025-05-17 加入
Genetic architecture of thoracic aortic dissection in the female population
8天前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
8天前
已完结
Strict 3′ splice site sequence requirements for U2 snRNP recruitment after U2AF binding underlie a genetic defect leading to autoimmune disease
1个月前
已完结
Unexpected SLC34A3 rickets in a case of suspected distal myopathy
1个月前
已关闭
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review
1个月前
已完结
Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis
2个月前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
2个月前
已完结
Clinical and genetic findings in an Iraqi family with TMEM67-associated Joubert syndrome
2个月前
已完结
Clinical and genetic findings in an Iraqi family with TMEM67-associated Joubert syndrome
2个月前
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
3个月前
已完结
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