Genetics
- A case of Emanuel syndrome with t(11;22)(q23;q11.2) duplication
- A case of Feingold syndrome I
- A case of gonadal mosaicism
- A case of mosaic trisomy 13
- A case of partial trisomy 20p
- A case of suspected prenatal Joubert syndrome
- Automated bulk-sorting of molecular karyotypes and classification of copy number variants
- Fetal exome sequencing in prenatal diagnosis
- Gillessen-Kaesbach-Nishimura syndrome: prenatal and postnatal findings
- High rate of abnormal findings in prenatal trio exome in low risk pregnancies
- Incidental pathogenic variants detected in unrelated ultrasound findings
- Indications for based sampling in fetuses with markers and defects
- Prenatal diagnosis of sex chromosome abnormalities
- Prenatal screening for aneuploidies after preimplantation genetic testing
- Prenatal thalassemia screening in Viet Nam: a prospective cross-sectional comparative study
- Sickle cell disease: downregulation of GATA1 and oxidative stress response
- The importance of clinical exome sequencing for prenatal diagnosis
- Utility of preconception carrier testing to prevent autosomal recessive diseases