HKU Scholars Hub: Search

Search

Results 1-25 of 543 (Search time: 0.035 seconds).

previous
1
2
3
4
...
22
next

	Title	Author(s)	Issue Date	Views
	Clinical uncertainty and familial interactions in the inherited cardiac conditions clinic in Hong Kong: reconsidering individualised notions of autonomy Proceeding/Conference:European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics	Shipman, H Zayts, OA Chung, BHY	2018
	Epidemiology and outcome of post-transplant lymphoproliferative disorders in pediatric liver transplant receipient Proceeding/Conference:British Journal of Haematology Supplement	Chiang, AKS Huang, S Chung, BHY Cheuk, DKL Ha, SY Chan, GCF	2015
	Reanalyzing clinical whole exome sequencing (WES) data provides additional diagnosis in paediatric-onset undiagnowed diseases – A Yale-HKU collaboration Proceeding/Conference:Asia-Pacific Conference on Human Genetics (APCHG) 2019	Fung, LF Huang, S Pajusalu, S YU, HC Chan, M Lek, M Chung, BHY	2019
	Two cases of vascular emergency highlighting the importance of TGF-beta signaling pathway Proceeding/Conference:HKSMG 2012 AGM & Clinical Genetics Showcase Series - 1st Episode	Chung, BHY	2012
	Comprehensive genetic evaluation in paediatric-onset mitochondrial 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	Tsang, MHY Kwong, AKY Fung, JLF Yu, MHC Yeung, KS Mak, CCY Rodenburg, R Smeitink, J Luk, HM Lo, FMI Chung, BHY Fung, CW	2019
	Excellence in T&L - Building your teaching portfolio Proceeding/Conference:Professional Development Programme in Medical Education, Bau Institute of Medical & Health Sciences Education, LKS Faculty of Medicine, HKU	Chung, BHY	2021
	Hong Kong childhood stroke registry - a study of 50 cases (1991-2002) Proceeding/Conference:Hong Kong Medical Journal	Wong, V Chung, B	2004	96
	Identifying genetic mutations in patients with rasopathies using a next generation sequencing diagnostic pipeline in Hong Kong Proceeding/Conference:ASPR-JPS 2015 Joint Meeting	Chung, BHY	2015
	Validation and application of health utilities index in Chinese subjects with Down Syndrome Journal:Health and Quality of Life Outcomes	Mok, WKY Wong, WHS Mok, TKG Chu, WY Ho, KW Chow, CB Ip, P Chung, BHY	2014
	NGS in Prenatal Diagnosis/reproductive Genetics Proceeding/Conference:Asia-Pacific Conference on Human Genetics, APCHG 2017	Chung, BHY	2017
	Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019	32
	In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013	Rosenfeld, JA Stoate, K Asamoah, A Lebel, RR Raskin, S Russell, L Chitayat, D Chung, BHY Ellison, JW Schimmenti, LA	2013	27
	Discovering New Syndromes Proceeding/Conference:Yong Leo Lin School of Medicine, National University of Singapore	Chung, BHY	2020	19
	Aetiology of ASD: can genetic studies help? Proceeding/Conference:Hong Kong Journal of Paediatrics (new series)	Chung, BHY	2011	97
	From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Keating, S Chung, BHY Shaffer, L Chitayat, D	2009	44
	Analytical validity and clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis: abridged secondary publication Journal:Hong Kong Med J	Chung, BHY Kan, SYA Chan, YK Yang, W Tang, HYM Mak, CCY	2022	1
	A girl with multiple epiphyseal dysplasia due to novel C.955G >T mutation in the cartilage oligomeric matrix protein Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	Lai, SHY Tung, YL Chung, BHY	2018	28
	Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (new series)	Mok, GTK Chiang, JPW Yeung, JCC Chung, BHY	2014
	A dyadic approach to the delineation of diagnostic entities in clinical genomics Journal:The American Journal of Human Genetics	Biesecker, LG Adam, MP Alkuraya, FS Amemiya, AR Barnshad, MJ Beck, AE Bennett, JT Bird, LM Carey, JC Chung, B Clark, RD Cox, TC Curry, C Dinulos, MBP Dobyns, WB Glampietro, PF Girisha, KM Glass, IA Graham, JM Gripp, KW Haldeman-Englert, CR Hall, BD Innes, AM Kalish, JM Keppler-Noreuil, KM Kosaki, K Kozel, BA Mirzaa, GM Mulvihill, JJ Nowaczyk, MJM Pagon, RA Retterer, K Rope, AF Sanchez-Lara, PA Stevens, LH Shieh, JT Slavotinek, AM Sobering, AK Stevens, CA Stevension, DA Tan, TY Tan, WH Tsai, AC Weaver, DD Williams, MS Zackai, E Zarate, YA	2021	16
	EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome Journal:BMC genomics	Zeng, S Yang, J Chung, BHY Lau, YL Yang, W	25-Jun-2014	75
	Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS) Journal:Clinical Genetics	Michel, ME Konczyk, DJ Yeung, KS Murillo, R Vivero, MP Hall, AM Zurakowski, D Adams, D Gupta, A Huang, AY Chung, BHY Warman, ML	2018	72
	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	Chu, WY Chan, SSK Parents of Little People, HK Chung, BHY	2014	40
	Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey Journal:npj Genomic Medicine	Mak, CCY Leung, KC Mok, TKG Yeung, KS Yang, W Fung, CW Chan, HSS Lee, SL Lee, NC Pfundt, R Lau, YL Chung, BHY	2018	95
	Bioinformatic pipeline for the identification of transcription factor binding sites in mouse and human Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting	Fu, W Chung, BHY Smith, DK Cheung, PT	2006
	Impact of COVID-19 pandemic on rare disease patients and organisations in ten jurisdictions across the Asia Pacific region 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)	Chung, CY Ng, YNC Lau, CK Yau, MS Cheung, NYC Jain, R Wong-Reiger, D Chung, BHY	2020	8