HKU Scholars Hub: Browsing DSpace

Browsing by Author Chu, WY

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 1 to 20 of 45 next >

Title	Author(s)	Issue Date
A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia Journal:European Journal of Medical Genetics	Cheng, SW Luk, HM Chu, WY Tung, YL Kwan, EYW Lo, IFM Chung, BHY	2018
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine	LEUNG, KC Ying, D MAK, CCY Chen, XY Xu, W YEUNG, KS Wong, WL Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Sham, PC Lau, YL Chung, BHY Lee, SL	2017
CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014	Leung, KC Mak, CCY Chen, YX Chau, CSK Ying, D Chu, WY Li, AM Yang, W Lau, YL Chan, KYK Chen, JH Lee, SL Chung, BHY	2014
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
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop	Leung, KC Lo, I Luk, HM Tang, HMV Gao, W Wong, WL Chu, WY Lam, STS Ma, CH Jin, D Chan, YK Chung, BHY	2015
Clinical delineation of the PACS1-related syndrome: report on 19 patients Journal:American Journal of Medical Genetics	Janeke, HM Hoeijmakers, S Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, JA Glass, J Chitayat, D Burrow, TA Husami, A Collins, K Wusik, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernandez-Jaen, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, M van Karnebeek, CDM Stavropoulos, DJ Marshall, CR Gregor, A Zweler, C Hopkin, RJ Chu, WY Chung, BHY de Vries, BBA Devriendt, K DDD, STUDY Huries, ME Brunner, HG	2016
The clinical impact of chromosomal microarray on paediatric care in Hong Kong Journal:PLoS ONE	Tao, QV Chan, YK Chu, WY Mok, TKG Tan, TY Yang, W Lee, SL Tang, WF Tso, WYW Lau, ETK Kan, SYA Tang, MHY Lau, YL Chung, BHY	20-Oct-2014
Computer-aided facial recognition of Chinese individuals with Angelman syndrome in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016	Mok, GTK Chu, WY Luk, HM Chung, BHY	2016
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Leung, KC Ma, CH Gao, W Chu, WY Wong, WL Jin, D Lo, IFM Luk, HM Chung, BHY	2014
Current microfluidic platforms for reverse engineering of cornea Journal:Materials Today Bio	Li, QY Wong, HL Ip, YL Chu, WY Li, MS Saha, C Shih, KC Chan, YK	1-Apr-2023
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine	MAK, CCY Chow, PC Liu, APY Chan, YK Chu, WY Mok, TKG LEUNG, KC YEUNG, KS Chau, AKT Lowther, C Scherer, SW Marshall, CR Bassett, AS Chung, BHY	2016
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR Journal:The American Journal of Human Genetics	Panagiotou, ES Sanjurjo Soriano, C Poulter, JA Lord, EC Dzulova, D Kondo, H Hiyoshi, A Chung, BHY Chu, WY Lai, CHY Tafoya, ME Karjosukarso, D Collin, RWJ Topping, J Downey, LM Ali, M Ingleheam, CF Toomes, C	2017
EuniceScope: Low-Cost Imaging Platform for Studying Microgravity Cell Biology Journal:IEEE Open Journal of Engineering in Medicine and Biology	Chu, WY Tsia, KK	1-Jan-2023
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference	Chung, BHY Yeung, KS Tso, WYW Ying, D Ip, JKJ Chu, WY Leung, KC Mak, CCY	2016
Factors influencing length of stay amongst people with Down's Syndrome Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Gale, SC Chu, WY Ip, P Chow, CB Wong, WHS Ip, DKM Chung, BHY	2013
Genetic Couselling in Hong Kong Proceeding/Conference:APCHG 2015: Genetic Counseling Pre-conference Workshop	Chu, WY Chung, BHY Zayts, OA	2015
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Tsang, HY Leung, KC Mak, CCY Chu, WY Mu, X Lee, SL Chan, GCF Yung, AWY Chung, BHY	2016
GRIN2A-related disorders: genotype and functional consequence predict phenotype Journal:Brain	Strehlow, V Heyne, HO Vlaskamp, DRM Marwick, KFM Rudolf, G de Bellescize, J Biskup, S Brilstra, EH Brouwer, OF Callenbach, PMC Hentschel, J Hirsch, E Kind, PC Mignot, C Platzer, K Rump, P Skehel, PA Wyllie, DJA Hardingham, GE van Ravenswaaj-Aris, CMA Lesca, G Lemke, JR Arzimanoglou, A Augustijn, PB Van Bogaert, P Bourry, H Burfeind, P Chu, WY Chung, BHY Doummar, D Edery, P Fattai-Valevski, A Fradin, M Gerard, M de Geus, C Gunning, S Hasaerts, D Helbig, I Heibig, KL Jamra, R Lyver, MJ Wassink-Ruifer, JSK Koolen, DA Lederer, D Lunsing, RJ Mathot, M Maurey, H Manascu, S Mishel, A Mirzaa, G Mittler, D Muhie, H Malter, RS Nava, C O'Brien, M van Piruderen-Nagler, E van Riesen, A Rougeot, C Sariaville, D Schieving, JH Syrte, S Veenstra-Knol, HE Verbeek, N Ville, D Vos, YJ Vrielynck, P Wagner, S Weckhuysen, S Willemsen, MH	2019
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

Showing results 1 to 20 of 45 next >