Showing results 1 to 10 of 10
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Epigenetic dysregulation in hepatocellular carcinoma: focus on polycomb group proteins
Journal:Frontiers of Medicine
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus.
Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019)