• 已选条件：
  • × BMC Medical Genetic
  • × Human genetics
 全选  【符合条件的数据共：2条】

1 Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency [期刊论文]

来源：BMC Medical Genetics

作者:Vamsi K Mootha;Jeremy D Schmahmann;Katherine B Sims;等

关键词:Peroxisomal defects;Multi-system disorders;...

预览  |  原文链接  |  全文  [ 浏览：16 下载：18  ]    

2 Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency [期刊论文]

来源：BMC Medical Genetics

作者:Vamsi K Mootha;Jeremy D Schmahmann;Katherine B Sims;等

关键词:Peroxisomal defects;Multi-system disorders;...

预览  |  原文链接  |  全文  [ 浏览：8 下载：7  ]