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55 积分 2021-06-21 加入
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
1个月前
已完结
Exploring the Role of Genetic Testing in Decisions to Redirect Care in Critically Ill Infants
1个月前
已完结
Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome
1个月前
已完结
Enhanced Recovery after Fetal Sequencing: A Perinatal Genomic Scoping Review of Exome/Genome Testing for Reproductive/Obstetric-MFM Providers to Initiate Knowledge Translation following a Screening Ultrasound Identifying Fetal Anomalies
2个月前
已完结
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
3个月前
已完结
Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders
3个月前
已完结
Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants
4个月前
已完结
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome
4个月前
已完结
Tailoring monogenic disease carrier screening panels for Chinese populations: The importance of considering regional differences
5个月前
已完结
Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study
5个月前
已完结
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