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48 积分 2024-12-02 加入
Outcomes analysis of verbal dyspraxia in classic galactosemia
1个月前
已完结
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
1个月前
已完结
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations
1个月前
已完结
[Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis]
1个月前
已关闭
COL4A3 mutations cause focal segmental glomerulosclerosis
1个月前
已完结
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy
1个月前
已关闭
[Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome]
1个月前
已完结
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy
1个月前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
2个月前
已完结
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