Lv3
275 积分 2021-02-23 加入
Targeted long-read sequencing for high-resolution repeat profiling in myotonic dystrophy type 1
6天前
已完结
Evaluating non-invasive Preimplantation Genetic Testing for Aneuploidy (niPGT-A) from spent culture medium: prolonged embryo culture to day 6 increases informativity without negatively impacting quality and live birth rates
19天前
已完结
Screening for non-invasive rsRNA biomarkers to assess embryo quality utilizing ultra-sensitive pandora sequencing combined with machine learning
20天前
已完结
Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome
28天前
已完结
Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
28天前
已完结
Detection of hemophilia A genetic variants using third-generation long-read sequencing
29天前
已完结
Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
1个月前
已完结
Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
1个月前
已完结
A novel mutation of −73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia
1个月前
已完结
The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition
1个月前
已关闭
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