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Showing results 1 to 8 of 8

	Title	Author(s)	Issue Date
	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)	Liu, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013
	Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Journal:Nature	Mensah, MA Niskanen, H Magalhaes, AP Basu, S Kircher, M Sczakiel, HL Reiter, AMV Elsner, J Meinecke, P Biskup, S Chung, BHY Dombrowsky, G Eckmann=Schoiz, C Hitz, MP Hoischen, A Holterhus, PM Hulsemann, W Kahrizi, K Kalscheuer, VM Kan, SYA Krumbiegel, M Kurth, I Leubner, J Longardt, AC Moritz, JD Najmabadi, H Skipalova, K Snijders, BL Tzschach, A Wiedersberg, E Zenker, M Garcia-Cabau, C Buschow, R Salvatella, X Kraushar, ML Mundlos, S Callebe, A Spielmann, M Horn, D Hnisz, D	2023
	Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept Journal:npj Genomic Medicine	Lee, M Kwong, KY Chui, MCM CHAU, FTJ Mak, CCY Au, LKS Lo, HM Chan, YK Yepez, VA Gagneur, J Kan, SYA Chung, BHY	2022
	Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong Journal:International Journal of Gynecology & Obstetrics	So, PL Cheng, YKY Cheuk, KY Chiu, WK Mak, SL Mok, SL Lo, TK Yung, WK Lo, FMI Chung, BHY Kan, SYA Lee, CP Tang, MHY	2019
	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	Leung, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016
	Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong Journal:Journal of Obstetrics and Gynaecology Research	So, PL Cheng, YKY Cheuk, KY Chiu, WK Mak, SL Mok, SL Lo, TK Yung, WK Lo, FM Chung, BHY Kan, SYA Lee, CP Tang, MHY	2017
	Two unusual cases of haemoglobin Bart’s hydrops fetalis screened negative on universal prenatal screening for thalassaemia Proceeding/Conference:Ultrasound in Obstetrics and Gynecology	Kou, KO Lee, HH Lau, B Wong, WS Kan, SYA Tang, MHY Poon, CF Leung, KY	2013
	Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care Journal:European Journal of Medical Genetics	Liu, APY Chow, PC Lee, PPW Mok, GTK Tang, WF Lau, ETK Lam, STS Chan, YK Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2014

Showing results 1 to 8 of 8