Lv41
530 积分 2021-08-07 加入
Evaluating ClinGen variant curation expert panels' application of PVS1 code
5小时前
待确认
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
9天前
已完结
Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis
1个月前
已完结
Clinical utility and limitations of non-invasive prenatal testing for chromosome 20 abnormalities: A retrospective study of 83 high-risk pregnancies
1个月前
已完结
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome
1个月前
已完结
Transposable element DNA and RNA: Drivers of gene expression, evolution, and disease
2个月前
已完结
Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study
2个月前
已完结
Genetic Investigation of Fetal Left‐Right Laterality Defects Identified in the Second Trimester of Pregnancy
3个月前
已完结
Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations
3个月前
已完结
Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review
4个月前
已完结