Showing results 65 to 78 of 78
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Title | Author(s) | Issue Date | |
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Rare SUZ12 variants commonly cause an overgrowth phenotype Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2019 | ||
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 | ||
Silver-Russell syndrome in Hong Kong Journal:Hong Kong Medical Journal | 2016 | ||
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 | ||
Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum Journal:American Journal of Medical Genetics Part A | 2017 | ||
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation Journal:American Journal of Medical Genetics Part A | 2014 | ||
2008 | |||
Surgical Vision: Google Glass and Surgery Journal:Surgical Innovation | 2016 | ||
Synthesis and molecular structures of novel seven-co-ordinated oxo- and nitrido-rhenium(V) complexes of 2,2′:6′,2″:6″,2‴-quaterpyridine Journal:Journal of the Chemical Society, Dalton Transactions | 1992 | ||
The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology | 2017 | ||
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes Journal:Molecular Genetics & Genomic Medicine | 2020 | ||
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 | ||
1993 |