Showing results 25 to 31 of 31
< previous
Title | Author(s) | Issue Date | Views | |
---|---|---|---|---|
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 | |||
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 | ||
Reading NGS Test Report: What a clinician needs to know Proceeding/Conference:HA 2016 Commissioned Training Programme - Genetics in O&G | 2016 | |||
Retrospective cohort analysis on couples seeking pre-implantation genetic testing over a 5-year period Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN) | 2020 | 25 | ||
Somatic mosaicism of PIK3CA mutation in PIK3CA-related overgrowth disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014 | 2014 | 72 | ||
The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology | 2017 | 161 | ||
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 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 |