Lv4
518 积分 2025-06-30 加入
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
15天前
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
15天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2个月前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
2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
2个月前
已完结
Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency
2个月前
已完结
[Analysis of clinical manifestations and genetic characteristics of a late-onset auditory neuropathy pedigree caused by a mitochondrial
2个月前
已完结
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations
3个月前
已完结
The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD)
3个月前
已关闭
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
4个月前
已完结
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