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Title	Author(s)	Issue Date	Views
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children Journal:Clinical Dysmorphology	Yu, KPT Luk, HM Gordon, CT Fung, G Oufadem, M Garcia-Barcelo, MM Amiel, J Chung, BHY Lo, FMI Tan, TY	2018	102
Mechanisms for the generation of two quadruplications associated with split-hand malformation Journal:Human Mutation	Gu, S Posey, JE Yuan, B Carvalho, CMB Luk, HM Erikson, K Lo, IFM Leung, GKC Pickering, CR Chung, BHY Lupski, JR	2016	56
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape Journal:Orphanet Journal of Rare Diseases	Wong, TS Belaramani, KM Chan, CK Chan, WK Chan, WLL Chang, SK Cheung, SN Cheung, KY Cheung, YF Chong, SCJ Chow, CKJ Chung, HYB Fan, SYF Fok, WMJ Fong, KW Fung, THS Hui, KF Hui, TH Hui, JN Ko, CH Kwan, MC Kwok, MKA Kwok, SSJ Lai, MS Lam, YO Lam, CW Lau, MC Law, CYE Lee, WC Lee, HCH Lee, CN Leung, KH Leung, KY Li, SH Ling, TKJ Liu, KTT Lo, FM Lui, HT Luk, CO Luk, HM Ma, CK Ma, KR Ma, KH Mew, YN Mo, AL Ng, SF Poon, WKG Rodenburg, R Sheng, B Smeitink, J Szeto, CLC Tai, SM Tse, CTA Tsung, LL Wong, HMJ Wong, WYW Wong, KK Wong, SNS Wong, CNV Wong, WSS Wong, CKF Wu, SP Wu, HFJ Yau, MM Yau, KCE Yeung, WL Yeung, HMJ Yip, KKE Young, PHT Yuan, G Yuen, YPL Yuen, CL Fung, CW	2-Mar-2023
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension Journal:American Journal of Medical Genetics Part A	McDonell, LM Leung, KC Daoud, H Ip, JKJ Chim, S Luk, HM Lan, CLL Care4Rare Canada Consortium Boycott, KM Chung, BHY	2018	64
Myhre syndrome: a report of six Chinese patients and literature review Journal:Clinical Dysmorphology	Yu, KPT Luk, HM Chung, BHY Lo, FMI	2019	61
NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications	Choufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Cohen, ASA Dupuis, L Butcher, DT Siu, MT Luk, HM Lo, IFM Lam, STS Caluseriu, O Stavropoulos, DJ Reardon, W Mendoza-Londono, R Brudno, M Gibson, WT Chitayat, D	2015	72
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014	Chonufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Luk, HM Lo, IFM Lam, STS Stavropoulos, DJ Gibson, B Reardon, M Brudno, M Mendoza-Londono, R Chitayat, D Weksberg, R	2014	62
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	36
Phenotypic heterogeneity in 2 sisters with SMAD3-associated aneurysms-osteoarthritis syndrome (AOS) - insights into the pathogenesis from phenotypic assessment and immunohistochemical analysis using patient-derived dermal fibroblasts Proceeding/Conference:34th Annual David W. Smith Workshop	Chung, BHY Luk, HM Chan, SHS Shen, WY Hinek, A	2013	29
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	18
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
Prenatal diagnosis and long term follow up of a patient with mosaic variegated aneuploidy and its molecular analysis Proceeding/Conference:22nd International Conference on Prenatal Diagnosis and Therapy, 2018	Lin, SM Luk, HM Kan, SYA Tam, WK Chan, KYK Tse, HY Leung, WC Tang, MHY	2018	35
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	13
Prenatal diagnosis of familial atretic encephalocele Journal:Ultrasound in Obstetrics and Gynecology	Lau, WL Yung, WY Leung, WC Kan, A Chan, K Luk, HM Kan, E Lam, YY	2019	40
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in <i>SMAD4</i> gene presented with thick nuchal translucency and cardiac abnormalities Journal:Prenatal Diagnosis	Hui, PW Mok, YK Luk, HM Au, SLK Lau, EYT Chung, B Kan, ASY	2-Aug-2023
Prenatal phenotype of Kabuki syndrome: A case series and literature review Journal:Prenatal Diagnosis	So, PL Luk, HM Cheung, KW Hui, W Chung, MY Mak, SLA Lok, WY Yu, KPT Cheng, SS.W.Hau, EW.L.Ho, S Lam, ST.S.Lo, IF.M.	2021	5
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications Journal:American Journal of Medical Genetics Part A	Yu, PT Shu, W Mok, SL Hui, PW Chan, LW Kwok, KY Chan, YK Lo, TK Chung, BHY Luk, HM Kan, SYA	2022	9
Rare SUZ12 variants commonly cause an overgrowth phenotype Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Cyrus, SS Cohen, ASA Agbahovbe, R Avela, K Yeung, KS Chung, BHY Luk, HM Tkachenko, N Choufani, S Weksberg, R Lopez-Rangel, E Brown, K Sanenz, MS Svihovec, S McCandless, SE Bird, LM Garcia, AG Cambello, MJ McWalter, K Schnur, RE An, J Jones, SJM Bhalla, SK Pinz, H Braddock, SR Gibson, WT	2019	24
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	26
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	23

Showing results 34 to 53 of 58 < previous next >