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Showing results 57 to 76 of 77 < previous next >

Title	Author(s)	Issue Date
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Journal:Brain	Mak, CCY Doherty, D Lin, AE Vegas, N Cho, MT Viot, G Dimartino, C Weisfeld-Adams, JD Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, YA Ehmke, N Horn, D Troyer, C Kant, SG Lee, Y Ishak, GE Leung, G Barone Pritchard, A Yang, S Bend, EG Filippini, F Roadhouse, C Lebrun, N Mehaffey, MG Martin, P-M Apple, B Millan, F Puk, O Hoffer, MJV Henderson, LB McGowan, R Wentzensen, IM Pei, S Zahir, FR YU, M Gibson, WT Senab, A Steeves, M Murrell, JR Luettgen, S Francisco, E Strom, TM Amlie-Wolf, L Kaindl, AM Wilson, WG Halbach, S Basel-Salmon, L Lev-El, N Denecke, J Vissers, LELM Radtke, K Chelly, J Zackai, E Friedman, JM Bamshad, MJ Nickerson, DA Reid, RR Devriendt, K Chae, JH Stolerman, E McDougall, C Powis, Z Bienvenu, T Tan, TY Orenstein, N Dobyns, WB Shieh, JT Choi, M Waggoner, D Gripp, KW Parker, MJ Stoler, J Lyonnet, S Cormier-Daire, V Viskochil, D Hoffman, TL Amiel, J Chung, BHY Gordon, CT University of Washington Center for Mendelian Genomics	2020
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction Journal:Circulation: Genomic and Precision Medicine	Ma, ACH Mak, CCY Yeung, KS Pei, SLC Ying, D YU, MHC Hasan, KMM Chen, X Chow, PC Cheung, YF Chung, BHY	2020
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology	Tsang, MHY Chiu, ATG Kwong, BMH Rui, LIANG Yu, MHC Yeung, KS Ho, WHL Mak, CCY Leung, GKC Muntoni, F Chung, BHY Chan, HSS	2019
Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	van Damme, T Gardenchik, T Mohamed, M Gucerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W De Rycke, R Hotschen, A Kamstccg, EJ Wong, SY van Scherpenzeei, M Jamali, P Brandt, U Nijtmans, L Korenke, C Chung, BHY Mak, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, PKC Ghadcri-Soli, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfair, F Morava, E Callewaert, B	2016
Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa Journal:American Journal of Human Genetics	van Damme, T Gardeitchik, T Mohamed, M Guerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W DeRycke, R Hoischen, A Kamsteeg, EJ Wong, SY van Scherpenzeel, M Jamali, P Brandt, P Nijtmans, L Korenke, GC Chung, BHY MAK, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, KCP Ghaderi-Sohi, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfait, F Morava, E Callewaert, B Wevers, RA	2017
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Leung, GKC Mak, CCY Pei, SLC Tsang, MHY Yu, MHC Yeung, KS Mok, GTK Hui, APW Tang, MHY Chan, KYK Kan, SYA Chung, BHY	2017
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020	Chung, BHY Ma, ACH Mak, CCY Yeung, KS Ding, J Pei, LCS Ying, D Chow, PC Yu, HC Hasan, KMM Chen, X Cheung, YF	2020
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion Journal:Clinical Genetics	Chiu, TA Pei, LCS MAK, CCY Leung, KC YU, HC Lee, SL Vreeburg, M Pfundt, R van der Burgt, I Kleefstra, T Frederic, TMT Nambot, S Faivre, L Bruel, AL Rossi, M Isidor, B Kury, S Cogne, B Besnard, T Willems, M Reijnders, MRF Chung, BHY	2018
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics	Yeung, KS Ho, SP Lee, SL Kan, SYA Chan, YK Tang, MHY MAK, CCY Leung, KC So, PL Pfundt, R Marshall, CR Scherer, SW Choufani, S Weksberg, R Chung, BHY	2018
Perception of Hong Kong Undergraduate on Personalized Medicine, Pharmacogenomics and Genetic Testing Proceeding/Conference:Royal College of Paediatrics and Child Health (RCPCH) International Conference & the 9th Singapore Paediatric & Perinatal Annual Congress	Cheung, NYC Mak, CCY Fung, LF Chung, BHY	2021
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome Journal:American Journal of Medical Genetics Part A	Rethanavelu, K Fung, JLF CHAU, JFT Pei, SLC CHUNG, CCY Mak, CCY Luk, HM Chung, BHY	2020
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program Proceeding/Conference:Kidney International Supplement	Li, PKT Kwan, BCH Leung, CB Kwan, TH Wong, KM Lui, SL Tsang, WK Mak, CCY Mak, SK Yu, AWY Tang, S	2005
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine	YU, MHC TSANG, MHY Lai, S Ho, MSP Tse, DML Willis, B Kwong, AKY Chou, YY Lin, SP Quinzii, CM Hwu, WL Chien, YH Kuo, PL Chan, VCM Tsoi, C Chong, SC Rodenburg, RJT Smetinik, J Mak, CCY Yeung, KS Fung, LF Lam, W Hui, J Lee, NC Fung, CW Chung, BHY	2019
Reading NGS Test Report: What a clinician needs to know Proceeding/Conference:HA 2016 Commissioned Training Programme - Genetics in O&G	Chung, BHY Leung, KC Yeung, KS Mak, CCY	2016
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Journal:Human Mutation	Ng, BG Sosicka, P Agada, S Almannai, M Bacino, CA Barone, R Botto, L Burton, JE Carlston, C Chung, BHY Cohen, J Coman, D Dobyns, W Elias, AF Epstein, L Garozzo, D Grunewald, S Hammer, TB Haven, J Heron, D Hoganson, GE Lakhani, S Lee, J Lewis, K Longo, N Lourenco, CM Mak, CCY Mendelsohn, B Mignnot, C Mirzaa, G Mitchell, W Olezak, M Parikian, A Patterson, MC Pierson, T Quinonez, SC Regan, B Rosa, ME Scaglia, F Scheffer, I Segal, D Singhal, NS Striano, P Sturiale, L Symonds, J Willis, M Wolfe, LA Yano, S Powis, Z Suchy, S Mokry, JA Edmondson, AC Freeze, HH	2019
Understanding and perception of Direct-to-Consumer genetic testing in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Hui, VCC Li, HC Chow, JHK Ng, CSC Lui, CYW Fung, LF Mak, CCY Chung, BHY Lau, KK	2020
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong Journal:Journal of Genetic Counseling	Hui, VCC Li, HC Chow, JHK Ng, CSC Lui, CYW Fung, JLF Mak, CCY Chung, BHY Lau, KK	2021
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
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
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Chu, YWY Leung, KC Mak, ASL Chiu, TA Mak, CCY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, VCN Lee, SL Marshall, C Scherer, S Kan, SYA Chung, BHY	2016

Showing results 57 to 76 of 77 < previous next >