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90 积分 2023-08-02 加入
Inherited CARD9 deficiency in a patient with both subcutaneous mucormycosis and hepatic candidiasis
12天前
已完结
遗传病二代测序临床检测全流程规范化共识探讨(4)——检测报告解读和遗传咨询
19天前
已完结
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
5个月前
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
6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
7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
9个月前
已完结
NAA10-related syndrome
9个月前
已完结
A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
1年前
已关闭
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