Lv4
528 积分 2025-06-30 加入
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
14天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
14天前
已完结
P793: Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate
1个月前
已完结
Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency
1个月前
已完结
[Analysis of clinical manifestations and genetic characteristics of a late-onset auditory neuropathy pedigree caused by a mitochondrial
1个月前
已完结
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations
1个月前
已完结
The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD)
1个月前
已关闭
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
2个月前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
2个月前
已完结
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