Showing results 8 to 14 of 14
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array 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 | 47 | ||
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A | 2015 | 56 | ||
Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2013 | 2013 | 44 | ||
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013 | 2013 | 26 | ||
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 | 61 | ||
What is the Diagnosis ? - 1P36 deletion Journal:Hong Kong Journal of Paediatrics (new series) | 2015 | 28 | ||
What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series) | 2016 | 17 |