Lv3
377 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
中国自身免疫性脑炎诊治专家共识（2022年版）
3天前
已完结
Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains
3天前
已完结
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
7天前
已完结
Single Nucleotide Polymorphism (SNP) Chromosomal Microarray as a Diagnostic Tool for Mucinous Tubular and Spindle Cell Carcinoma: A Validation Study
7天前
已完结
SPTAN1基因突变导致全面发育落后及癫痫性脑病3例并文献复习
7天前
已完结
A deep intronic BTK variant underlies X-linked agammaglobulinemia
7天前
已完结
Systematic reanalysis of copy number losses of uncertain clinical significance
8天前
已完结
Human embryonic genetic mosaicism and its effects on development and disease
8天前
已完结
SALL4 deletion and kidney and cardiac defects associated with VACTERL association
8天前
已完结
The status of the human gene catalogue
9天前
已完结
皖公网安备34019202002308
