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110 积分 2022-02-12 加入
Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review
17天前
已关闭
Prenatal treatment of spinal muscular atrophy
17天前
已完结
Congenital Adrenal Hyperplasia
18天前
已完结
Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency
18天前
已完结
Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis
25天前
已完结
First-trimester application of non-invasive prenatal testing in the genetic investigation of fetal cystic hygroma and hydrops fetalis associated with Turner syndrome
25天前
已完结
Non‐Invasive Prenatal Testing Results, Nuchal Translucency Size, and Second Trimester Resolution Modify First Trimester Cystic Hygroma Outcomes
26天前
已完结
Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell‐Free DNA Screening: A Review of 33 Cases
26天前
已完结
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome
1个月前
已完结
P635: Maternal implications of Triple X syndrome detected after abnormal NIPT and inconclusive expanded carrier screening: A case-report
1个月前
已完结
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