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Showing results 39 to 58 of 58 < previous

Title	Author(s)	Issue Date
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
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
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
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
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 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
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
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
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
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
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
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
What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Lo, HPW Chu, YWY Luk, HM Chung, BHY	2016
What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Lam, ALN Ip, J Luk, HM Chung, BHY	2016
Williams-Beuren syndrome in diverse populations Journal:American Journal of Medical Genetics Part A	Kruszka, P Porras, AR de Souza, DH Moresco, A Huckstadt, V Gill, AD Goyle, 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 Mirshra, R Kislling, MS Ferreira, CR de Herreros, MB Lee, NC Jamuar, SS Lai, A Tan, ES Lim, JY Cham Breaba, 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 Chavez 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

Showing results 39 to 58 of 58 < previous