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Title	Author(s)	Issue Date	Views
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report Journal:Diagnostics	Ng, KSV Lau, TK Kan, SYA Chung, BHY Luk, HM Ng, WF Shi, M Choy, KW Cao, Y Leung, WC	2021	4
A prenatal case of Noonan syndrome with cystic hygroma and normal karyotype Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017	So, PL Luk, HM Kan, SYA	2017
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
Applications and Safety of Sentinel Lymph Node Biopsy in Endometrial Cancer Journal:Journal of Clinical Medicine	Chiu, KC Kwok, STG Wang, Y Luk, HM Chan, HYA Tse, KY	2022
Arginase deficiency with new phenotype and a novel mutation: Contemporary Summary Journal:Pediatric Neurology	Tsang, JPK Poon, WL Luk, HM Fung, CW Ching, CK Mak, CM Lam, CW Siu, TS Tam, S Wong, VCN	2012	71
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	50
Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Mok, GTK Luk, HM Chu, YWY Chung, BHY	2014	44
Coffin–Lowry syndrome in Chinese Journal:American Journal of Medical Genetics Part A	Fung, JLF Rethanavelu, K Luk, HM Ho, MSP Lo, IFM Chung, BHY	2019
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Chan, HSS Kwong, AKY Tsang, HY Ho, RSL Luk, HM Lee, H Chung, BHY Bonnemann, CG	2019	58
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSS Kwong, KY Luk, HM Lo, IFM Fung, STH Tsang, HYM Chung, BHY Chan, AOK	2019	32
COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders	Kwong, KY ZHANG, Y Ho, SLR Gao, Y XU, L TSANG, HY Luk, HM Chung, BHY Bonnemann, CG Javed, A Chan, HSS	2023
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Tsang, MHY Kwong, AKY Fung, JLF Yu, MHC Yeung, KS Mak, CCY Rodenburg, R Smeitink, J Luk, HM Lo, FMI Chung, BHY Fung, CW	2019
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	74
Computer-aided facial recognition of Chinese individuals with Angelman Syndrome in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Mok, TKG Fleischer, N Luk, HM Chung, BHY	2016	32
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	84
Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong Journal:BMC Pregnancy and Childbirth	CHUNG, CCY Chan, KYK Hui, PW Au, PKC Tam, WK Li, SKM Leung, GKC Fung, JLF Chan, MCY Luk, HM Mak, ASL Leung, KY Tang, MHY Chung, BHY Kan, ASY	2020	44
Cover Image, Volume 176A, Number 5, May 2018 Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR de Souza, DH Moresco, A Huckstadt, V Gill, AD Boyle, AP Hu, T Addissie, YA Mok, TKG Tekendo-Ngongang, C Fieggen, K Prijoles, EJ Tanpaiboon, P Honey, E Luk, HM Lo, FMI Thong, MK Muthukumarasamy, P Jones, KL Belhassan, K Ouldim, K El Bouchikhi, I Bouguenouch, L Shukla, A Girisha, KM Sirisena, ND Dissanayake, VHW Paththinige, CS Mishra, R Kisling, MS Ferreira, CR de Herreros, MB Lee, NC Jamuar, SS Lai, A Tan, ES Lim, YJ Cham Breana, WM Gupta, N Lotz-Esquivel, S Badilla-Porras, R Hussen, DF El Ruby, MO Ashaat, EA Patil, SJ Dowsett, L Eaton, A Innes, AM Shotelersuk, V Badoe, E Wonkam, A Obregon, MG Chung, BHY Trubnykova, M La Serna, J Gallardo Jugo, BE Ghavez Pastor, M Abarca Barriga, HH Megarbane, A Kozel, BA van Haelst, MM Stevenson, RE Summar, M Adeyemo, AA Morris, CA Moretti-Ferreira, D Linguraru, MG Muenke, M	2018	93
CTNNB1 Neurodevelopmental Disorder Journal:GeneReviews	Ho, S TSANG, HY Cheng, SSW Luk, HM Lo, FMI Chung, BHY	2022	4
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series Journal:American Journal of Medical Genetics Part A	Chow, S TSANG, HY Fung, LF Huang, H Chow, CB Cheng, SSW Luk, HM Chung, BHY Lo, FMI	2021
Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell Journal:Sci Rep	Leung, HCM Yu, H Zhang, Y Leung, WS Lo, IFM Luk, HM Law, WC Ma, KK Wong, CL Wong, YS Luo, R Lam, TW	2022	2

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