Lv1
82 积分 2021-03-26 加入
Microproteins at the Frontiers of Biology and Medicine
2天前
求助中
Maternal genetic variants associated with aneuploid conception: a narrative review
2天前
待确认
Guidelines for the diagnosis, treatment, and management of Citrin deficiency(2026 Edition)
24天前
已完结
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
26天前
已完结
Clinical practice guidelines for β-thalassemia
28天前
已完结
Expert consensus on the clinical application of chromosomal microarray analysis in pediatric genetic diseases
1个月前
已完结
A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis
1个月前
已完结
Natural History of CNGA1-Associated Retinitis Pigmentosa in a Large Chinese Cohort Revealing an Optimal Intervention Window
1个月前
已完结
Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders
1个月前
已完结
A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans
1个月前
已完结
皖公网安备34019202002308
