Lv41
538 积分 2025-06-30 加入
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
5小时前
求助中
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
20天前
已完结
广州5 670例新生儿基因与传统生化联合筛查结果及3年随访
1个月前
已完结
南京地区175 767例串联质谱技术新生儿筛查结果分析
1个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
3个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
3个月前
已完结
P793: Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate
4个月前
已完结
Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency
4个月前
已完结
[Analysis of clinical manifestations and genetic characteristics of a late-onset auditory neuropathy pedigree caused by a mitochondrial
4个月前
已完结
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