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Title | Author(s) | Issue Date | |
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CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014 | 2014 | ||
Challenges faced by little people of Hong Kong: narrative medicine in clinical genetics practice Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop | 2015 | ||
Computer-aided facial recognition of Chinese individuals with Angelman syndrome in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016 | 2016 | ||
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference | 2016 | ||
Factors influencing length of stay amongst people with Down's Syndrome Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | ||
Genetic Couselling in Hong Kong Proceeding/Conference:APCHG 2015: Genetic Counseling Pre-conference Workshop | 2015 | ||
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
Health-related quality of life of Chinese individuals with Down Syndrome in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | ||
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2014 | ||
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
Inheritance and risk assessment Proceeding/Conference:HA 2014 Commissioned Program: Clinical Genetics & Genetic Counseling for nurses - Clinical Genetics in Paediatrics | 2014 | ||
Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | ||
Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
Paediatric counseling & scenarios Proceeding/Conference:HA 2014 Commissioned Program: Clinical Genetics & Genetic Counseling for nurses - Clinical Genetics in Paediatrics | 2014 | ||
Physical measurements for Chinese children - a pilot study in kindergartens of Hong Kong Proceeding/Conference:HKPS-HKPNA 2015 Joint Annual Scientific Meeting | 2015 | ||
The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology | 2017 |