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Showing results 19 to 38 of 45 < previous next >

Title	Author(s)	Issue Date	Views
Health-related quality of life of Chinese individuals with Down Syndrome in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Mok, WKY Wong, WHS Chu, WY Chung, BHY Ip, P	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)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014	67
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	Leung, KC Ying, D Mak, CCY Chen, XY Xu, W Yeung, KS Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Lau, YL Lee, SL Chung, BHY	2016	30
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	52
Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Wong, WL Chu, WY Yeung, KS Mak, CCY Wong, KY Li, RHW Tang, MHY Chung, BHY	2014
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)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014	123
Inheritance and risk assessment Proceeding/Conference:HA 2014 Commissioned Program: Clinical Genetics & Genetic Counseling for nurses - Clinical Genetics in Paediatrics	Chung, BHY Chu, WY	2014	20
Insights on Sensitive Language Use in the Hong Kong Healthcare Setting: Perceptions of Parents and Caregivers of Patients Affected with Down Syndrome Journal:Hong Kong Journal of Paediatrics (New series)	Chu, WY Chu, SPW Mok, WKY Tan, TY Chung, BHY	2017	33
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports	Leung, KC Luk, HM Tang, HMV Gao, W MAK, CCY YU, HC Wong, WL Chu, WY Yang, W Wong, WHS Ma, CH Leung, AYH Jin, D Chan, YK Allanson, J Lo, FMI Chung, BHY	2018	100
Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Tao, V She, W Chu, WY Tso, W Chan, KY Lau, EYL Kan, A Tang, MH Lau, YL Chung, BHY	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	Fung, GPC Chu, WY Chan, HB Oufadem, M Amiel, J Gordon, CT Chung, BHY Tan, TY	2014	62
Paediatric counseling & scenarios Proceeding/Conference:HA 2014 Commissioned Program: Clinical Genetics & Genetic Counseling for nurses - Clinical Genetics in Paediatrics	Chung, BHY Chu, WY Lee, WM	2014	32
Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Journal:Human Genetics	Szafranski, P Gambin, T Dharmadhikari, AV Akdemir, KC Jhangiani, SN Schuette, J Godiwala, N Yatsenko, SA Sebastian, J Madan-Khetarpal, S Surti, U Abellar, RG Bateman, DA Wilson, AL Markham, MH Slamon, J Santos-Simarro, F Palomares, M Nevado, J Lapunzina, P Chung, BHY Wong, WL Chu, WY Mok, TKG Eitan, K Reiter, J Ambalavanan, N Anderson, SA Kelly, DR Shieh, J Rosenthal, TC Steiner, L Iqbal, MA McKinnon, M Hamilton, SJ Schlade-Bartusiak, K English, D Hendson, G Roeder, ER DeNapoli, TS Littlejohn, RO Wolff, DJ Wagner, CL Yeung, A Francis, D Fiorino, EK Edelman, M Fox, J Hayes, DA Janssens, S Baere, ED Menten, B Loccufier, A Walleghem, LV Moerman, P Sznajer, Y Lay, AS Kussmann, JL Chawla, J Payton, DJJ Philips, GE Brosens, E Tibboel, D de Klein, A Maystadt, I Fisher, R Sebire, N Male, A Chopra, M Pinner, J Malcolm, G Peters, G Arbuckle, S Lees, M Mead, Z Quarrell, O Sayers, R Owens, M Shaw-Smith, C Lioy, J McKay, E de Leeuw, N Feenstra, I Spruijt, L Elmslie, F Thiruchelvam, T Bacino, CA Langston, C Lupski, JR Sen, P Popek, E Stankiewicz, P	2016	82
A patient with mosaic neurofibromatosis type 2 presenting with early onset meningioma Journal:BMJ Case Reports	Chu, WY Cheuk, KLD Chung, BHY Bowers, NL Ha, SY Chiang, AKS Chan, GCF	2014	49
Physical measurements for Chinese children - a pilot study in kindergartens of Hong Kong Proceeding/Conference:HKPS-HKPNA 2015 Joint Annual Scientific Meeting	Mok, TKG Chan, SSK Chu, WY Chan, SM Wong, WHS Chung, BHY	2015	38
Physical Measurements of Chinese Children in Hong Kong - A pilot study in preschools and kindergartens Journal:American Journal of Medical Genetics Part A	Mok, TKG Chan, SSK Chu, WY Chan, SM Wong, WHS Chung, BHY	2016	54
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics	Luk, HM Wong, VCH Lo, IFM Chan, YK Lau, ETK Kan, SYA Tang, MHY Tang, WF She, WMK Chu, WY Sin, WK Chung, BHY	28-Jan-2014	88
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Journal:Genetics In Medicine	van der Sluijs, E Jansen, S Vergano, SA Adachi-Fukuda, M Alanay, T Alkindy, A Baban, A Bayat, A Beck-Woddl, S Berry, K Bijsma, EK Netzer, C Ockeloen, CW Oehl-Jaschkowitz, B Okamoto, N Olminkhof, SNM Orellana, C Pasquier, L Pottinger, C Riehmer, V Robertson, SP Roifman, M Rooryck, C Ropers, FG Rosello, M Ruivenkamp, CAL Sagiroglu, MS Sallevelt, SCEH Sanchis Calvo, A Simsek-Kipser, PO Soares, G Solaeche, L Mujgan Sonmez, F Splitt, M Steenbeek, D Stegmann, APA Stumpel, CTRM Tanabe, S Uctepe, E Utine, GE Veenstra-Knol, HE Venkateswaran, S Vilain, C Vincent-Delorme, C Vulto-van Silfhout, AT Wheeler, P Wilson, GN Wilson, LC Wollnik, B Kosho, T Wieczorek, D Eichler, E Pfundt, R de Vries, BBA Clayuton-Smith, J Santen, GWE Bok, LA Brouwer, AFJ vab der Burgt, I Campeau, PM Canham, N Chrzanowska, K Chu, WY Chung, BHY Dahan, K De Rademaeker, M Destree, A Dudding-Byth, T Earl, R Elcioglu, N Elias, ER Fagerberg, C Gardham, A Gener, B Gerkes, EH Grasshoff, U van Haeringen, A Heitink, KR Herkert, JC den Hollander, NS Horn, D Hunt, D Kant, SG Kato, M Kayserili, H Kersseboom, R Kilic, E Krajewska-Walasek, M Lammers, K Laulund, LW Lederer, D Lees, M Lopez-Gonzalez, V Maas, S Mancini, GMS Marcelis, C Martinez, F Maystadt, I McGuire, M McKee, S Mehta, S Metcalfe, K Milunsky, J Mizuno, S Moeschler, JB	2018	110
The effect of lycium barbarum polysaccharide (LBP) on corneal opacification after epithelial-stromal injury Proceeding/Conference:Asia-Pacific Association of Cataract & Refractive Surgeons (APACRS) Annual Meeting & 2022 Korean Society of Cataract and Refractive Surgery (KSCRS) Annual Meeting	Chu, WY Shih, KC Chan, YK	2022	6
The genetics of macrocephaly, autistic spectrum disorders and developmental delay in Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology	Tso, WYW YEUNG, KS Ip, JKJ Liu, APY Lee, PPW Chu, WY Chong, CY Ho, MHK Chan, GCF Lau, YL Chung, BHY	2017	161

Showing results 19 to 38 of 45 < previous next >