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1430 积分 2024-11-08 加入
The Effect of NTCP Deficiency in Pregnancy on Maternal and Fetal Outcomes: A Case-control Study Based on SLC10A1 Genetic Analysis
3天前
求助中
多种酰基辅酶A脱氢酶缺乏症1例病例报告
18天前
已完结
Genotype–Phenotype Correlation of ETF Dehydrogenase Gene‐Related Multiple Acyl‐ CoA Dehydrogenation Deficiency in Chinese Patients
18天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms
1个月前
已完结
Accelerated death of megakaryocytes from Wiskott–Aldrich syndrome patients
1个月前
已完结
A novel pathogenic variant at the C‐terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability
1个月前
已完结
Trisomy 6qter
2个月前
已完结
Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status
2个月前
已完结
Prenatal diagnosis of trisomy 9. Six cases and a review of the literature
2个月前
已完结
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