Lv3
250 积分 2025-01-12 加入
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
4天前
已完结
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
4天前
已完结
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines
4天前
已关闭
Experience of reassessingFBN1variants of uncertain significance by gene-specific guidelines
4天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
10天前
已完结
Atlas of the clinical genetics of human dilated cardiomyopathy
20天前
已完结
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches
23天前
已完结
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
29天前
已完结
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands
1个月前
已完结
The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant
1个月前
已完结
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