Lv1
8 积分 2023-08-30 加入
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
2天前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
2天前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
2天前
已关闭
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
2天前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
10天前
已完结
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
25天前
已关闭
ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen
26天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
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