Showing results 1 to 17 of 17
Title | Author(s) | Issue Date | |
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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 | ||
A family with primordial dwarfism requesting preimplantation genetic testing Proceeding/Conference:Asia Pacific Society of Human Genetics (APSHG) Autumn School 2018 | 2018 | ||
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 | ||
Chromosomal Microarray (CMA) replacing traditional Karyotyping in HA Prenatal Diagnosis Service Proceeding/Conference:Hospital Authority Convention 2019 | 2019 | ||
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 | ||
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 | ||
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 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 | ||
Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2014 | ||
Next Generation Sequencing in Prenatal Diagnosis Proceeding/Conference:12th Asia-Pacific Conference on Human Genetics "Genomic Medicine and Clinical Practice", Bangkok, Thailand, 8-10 November 2017 | 2017 | ||
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 | ||
Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis Proceeding/Conference:22nd International Conference on Prenatal Diagnosis and Therapy, 2018 | 2018 | ||
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 | ||
Two unusual cases of haemoglobin Bart’s hydrops fetalis screened negative on universal prenatal screening for thalassaemia Proceeding/Conference:Ultrasound in Obstetrics and Gynecology | 2013 | ||
Use of chromosomal microarray in Hong Kong patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016 | 2016 | ||
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 |