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	Title	Author(s)	Issue Date
	Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A	Seto, MTY Bertoli-Avella, AM Cheung, KW Chan, KYK Yeung, KS Fung, JLF Beetz, C Bauer, P Luk, HM Lo, IFM Lee, CP Chung, BHY Kan, ASY	2021
	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
	Prenatal diagnosis and long‐term follow‐up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis Journal:Clinical Case Reports	LIN, SM LUK, HM LO, IFM TAM, WK Chan, KYK TSE, HY Leung, WC Tang, MHY Kan, ASY	2020
	Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy-A Territory Wide Collaborative Study in Hong Kong Journal:Child Neurology Open	Chan, SHS Lo, IFM Cherek, S Cheng, WW Fung, EL Yeung, WL Ngan, M Lee, WC Kwong, L Wong, SN Ma, CK Tai, SM Ng, SF Wu, SP Wong, VCN	2015
	Rubinstein–Taybi syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Tekendo-Ngongang, C Owosela, B Fleischer, N Addissie, YA Malonga, B Badoe, E Gupta, N Moresco, A Huckstadt, V Ashaat, EA Hussen, DF Luk, HM Lo, IFM Chung, BHY Fung, JLF Moretti-Ferreira, D Batista, LC Lotz-Esquivel, S Saborio-Rocafort, M Badilla-Porras, R Penon Portmann, M Jones, KL Abdul-Rahman, OA Uwineza, A Prijoles, EJ Ifeorah, IK Paneque, AL Sirisena, ND Dowsett, L Lee, S Cappuccio, G Kitchin, CS Diaz-Kuan, A Thong, MK Obregon, MG Mutesa, L Dissanayake, VHW El Ruby, MO Brunetti-Pierri, N Ekure, EN Stevenson, RE Muenke, M Kruszka, P	2020
	A second report of p.Pro986Leu variant in COL2A1 - phenotypic overlap with SEDC and other forms of type II collagenopathies Journal:American Journal of Medical Genetics (Part A)	Chung, BHY Luk, HM Lo, IFM Lam, STS Li, RHW	2013
	Silver-Russell syndrome in Hong Kong Journal:Hong Kong Medical Journal	Luk, HM YEUNG, KS Wong, WL Chung, BHY Tong, TMF Lo, IFM	2016
	Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation Journal:American Journal of Medical Genetics Part A	Yeung, KS Chee, WYY Luk, HM Kan, ASY Tang, MHY Lau, ETK Shuen, AY Lo, IFM Chan, YK Chung, BHY	2014
	Territory wide study of patients with dystrophinopathy in Hong Kong Proceeding/Conference:Neuromuscular Disorders	Chan, SHS Lo, IFM Cherk, S Cheng, WWS Fung, E Yeung, WL Lee, WC Wong, S Ma, CKL Tai, SM Yau, MM Ng, G Wu, SP Wong, VCN	2013
	Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010	Lai, CWS Lau, EWL Lo, IFM Chiu, WK Law, CW Tong, TMF Lam, STS	2011
	Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and Vasculopathy Journal:Hong Kong Journal of Paediatrics (new series)	Ho, CCA Chan, SY Chow, PC Wong, KT Lun, KS Lo, IFM Lam, STS Chau, AKT Lau, YL Chung, BHY	2012
	X-linked Dilated Cardiomyopathy with mutation In The 5′ Splice Site Intron 1 Of Dystrophin Gene With Utrophin Upregulation Journal:Journal of Pediatric Neurology	Chan, HSS Ho, RSL Lo, IFM Kan, AMC Lun, KS	2018

Showing results 19 to 30 of 30 < previous