Congenital Anomalies高引用文章

• A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11-13 weeks

  引用次数：7

• Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

  引用次数：6

• Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

  引用次数：5

• Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2

  引用次数：5

• Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms

  引用次数：4

• Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature

  引用次数：4

• Historical control data on developmental toxicity studies in rats

  引用次数：3

• Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study

  引用次数：3

• Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes

  引用次数：3

• Interkinetic nuclear migration in the tracheal and esophageal epithelia of the mouse embryo: Possible implications for tracheo-esophageal anomalies

  引用次数：2