Showing results 5 to 9 of 9
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong 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 | |||
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 | |||
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020 | 2020 | 20 | ||
Reanalyzing clinical whole exome sequencing (WES) data aprovides additional diagnosis in paediatric-onset undiagnosed diseases – a Yale-HKU collaborative study 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 | |||
Reanalyzing clinical whole exome sequencing (WES) data provides additional diagnosis in paediatric-onset undiagnowed diseases – A Yale-HKU collaboration Proceeding/Conference:Asia-Pacific Conference on Human Genetics (APCHG) 2019 | 2019 |