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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | 98 | ||
| 2018 | 26 | |||
A family with primordial dwarfism requesting preimplantation genetic testing Proceeding/Conference:Asia Pacific Society of Human Genetics (APSHG) Autumn School 2018 | 2018 | 4 | ||
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin Journal:Journal of Obstetrics and Gynaecology Research | 2018 | 1 | ||
A prenatal case of Noonan syndrome with cystic hygroma and normal karyotype Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017 | 2017 | 2 | ||
| 2016 | 14 | |||
| 2014 | 33 | |||
| 2017 | ||||
Chromosomal Microarray (CMA) replacing traditional Karyotyping in HA Prenatal Diagnosis Service Proceeding/Conference:Hospital Authority Convention 2019 | 2019 | |||
| 20-Oct-2014 | 87 | |||
Clinical Quiz - What is the Diagnosis Journal:Hong Kong Journal of Paediatrics (New series) | 2018 | 7 | ||
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 | 2019 | |||
Cryptic 12q duplication: a case study Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017 | 2017 | 2 | ||
Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results Journal:The Journal of Maternal-Fetal & Neonatal Medicine | 2019 | |||
Effect of knowledge on women’s likely uptake of and willingness to pay for non-invasive test (NIPT) Journal:European Journal of Obstetrics & Gynecology and Reproductive Biology | 2018 | 1 | ||
| 2016 | 22 | |||
| 2021 | 16 | |||
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) | 2019 | 10 | ||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | 28 | ||
Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature Journal:American Journal of Medical Genetics, Part A | 2013 | 112 |