Lv21
168 积分 2023-09-12 加入
The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal
1小时前
待确认
Southeast Asian ovalocytosis in an African-American family
1小时前
已完结
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
4天前
已完结
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism
4天前
已完结
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
4天前
已完结
7p22.1 microduplication syndrome: Refinement of the critical region
14天前
已完结
Y染色体微缺失遗传筛查专家建议(2025年)
21天前
已完结
遗传性高胆红素血症诊疗专家共识（2025年版）
21天前
已完结
关于人类染色体多态性的形态学特征、诊断标准和遗传咨询的专家共识
21天前
已关闭
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
26天前
已完结
皖公网安备34019202002308
