Lv6
2480 积分 2023-07-09 加入
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
2天前
已完结
Advancing precision care in pregnancy through a treatable fetal findings list
24天前
已完结
Non‐invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multicenter observational study of 1,854,148 women in China
24天前
已完结
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
24天前
已完结
Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply
1个月前
已完结
Newborn Screening Using Genome Sequencing for Early Actionable Conditions
1个月前
已完结
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
1个月前
已完结
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
1个月前
已完结
Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls
1个月前
已完结
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing
1个月前
已完结
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