Edgar W. L. Hau
Department of Health(CN)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Sarcoma Diagnosis and Treatment, Neurofibromatosis and Schwannoma Cases
Most-Cited Works
- → Prenatal phenotype of Kabuki syndrome: A case series and literature review(2021)17 cited
- → Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong(2020)14 cited
- Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.(2005)
- → Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong(2019)10 cited
- → Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex(2022)10 cited
- → Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years(2022)5 cited
- → Prader–Willi Syndrome: 16-Year Experience in Hong Kong(2012)4 cited