Lv4
618 积分 2025-06-30 加入
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa
19天前
已完结
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)
1个月前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
1个月前
已关闭
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
2个月前
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
3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
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
5个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
5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
5个月前
已完结
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