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Showing results 29 to 45 of 45 < previous

	Title	Author(s)	Issue Date	Views
	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	48
	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	24
	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	68
	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	41
	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	32
	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	43
	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	69
	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	111
	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	140
	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	Chung, BHY Mak, SL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Chan, YK Kan, SYA Tang, MHY Lau, ETK Fung, CW Lee, SL	2016	37
	Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Journal:Molecular Autism	Mak, ASL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, CNV Uddin, M Lee, SL Marshall, CR Scherer, SW Kan, ASY Chung, BHY	2017	159
	Utilization of whole exome sequencing for undiagnosed diseases in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2016	Mak, CCY Chung, BHY Chu, WY	2016	25
	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	42
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Chiu, TA Chu, WY Kan, SYA Chung, BHY	2016	32
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New Series)	Chu, WY Wong, WL Chung, BHY	2014	10
	What should be said and what should not be said? − Perception of parents and caregivers of individuals with Down Syndrome in Hong Kong on sensitive language in Cantonese used in healthcare setting Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Mok, WKY Chu, WY Wong, WHS Ip, P Zayts, OA Chung, BHY	2013	60

Showing results 29 to 45 of 45 < previous