Lv13
90 积分 2025-05-13 加入
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
2天前
已完结
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
2天前
已完结
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
2天前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
6天前
已完结
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
22天前
已完结
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation
27天前
已完结
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness
28天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
29天前
已关闭
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
29天前
已完结
Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency
1个月前
已完结
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