Lv3
310 积分 2022-08-15 加入
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
1天前
已完结
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
1天前
已完结
The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing
1个月前
已完结
A novel and accessible proband-free approach for noninvasive prenatal diagnosis of single-gene disorders
1个月前
已完结
Novel Haplotype‐Based Noninvasive Prenatal Diagnosis for Recessive Single‐Gene Disorders: A Proof‐of‐Concept Study
1个月前
已完结
Fetal Fraction of Cell‐Free DNA and Its Interaction With Maternal Pre‐Pregnancy Body Mass Index on Multiple Adverse Pregnancy Outcomes
1个月前
已完结
遗传性聋GJB2c.109G>A(p.Val37Ile)咨询要点及临床意义
2个月前
已完结
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
2个月前
已完结
The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes
3个月前
已完结
Large-scale implementation of non-invasive prenatal testing for fetal aneuploidies
3个月前
已完结
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