Lv2
138 积分 2023-12-12 加入
A novel PKHD1 missense variant disrupting splicing in a fetus with Caroli disease
14天前
已完结
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
9个月前
已完结
Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism and epilepsy
10个月前
已关闭
汉族面肩肱型肌营养不良症SSLP-D4Z4-4qA/qB-PLAM基因结构特征及其与临床表型的关系
10个月前
已完结
中国人面肩肱型肌营养不良症的临床表型及基因突变分析
10个月前
已完结
Spatial Lipid Metabolic Remodeling from Placenta to Multiple Suborgans during the Gestational Micro- or Nanoplastics Exposure
11个月前
已关闭
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity
11个月前
已关闭
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
11个月前
已完结
Short and long-term side effects of the Classic Ketogenic Diet in pediatric epilepsy treatment: A systematic review of clinical trials
11个月前
已完结
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