Lv6
2470 积分 2023-07-09 加入
Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II
11小时前
已完结
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
2个月前
已完结
Advancing precision care in pregnancy through a treatable fetal findings list
2个月前
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
2个月前
已完结
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
2个月前
已完结
Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply
3个月前
已完结
Newborn Screening Using Genome Sequencing for Early Actionable Conditions
3个月前
已完结
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
3个月前
已完结
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
3个月前
已完结
Fetal whole genome sequencing as a clinical diagnostic tool: Advantages, limitations and pitfalls
3个月前
已完结
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