Lv1
90 积分 2023-08-02 加入
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
14天前
已关闭
甲状腺分泌障碍5型合并家族性神经纤维瘤病胎儿家系的遗传学分析1例
1个月前
已完结
A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features
2个月前
已完结
Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population‐Specific Database
3个月前
已完结
NAA10-related syndrome
4个月前
已完结
A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
7个月前
已关闭
皖公网安备34019202002308
