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	Title	Author(s)	Issue Date	Views
	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
	Silver-Russell syndrome in Hong Kong Journal:Hong Kong Medical Journal	Luk, HM YEUNG, KS Wong, WL Chung, BHY Tong, TMF Lo, IFM	2016	58
	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	57
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Lo, HPW Chu, YWY Luk, HM Chung, BHY	2016	17
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Lam, ALN Ip, J Luk, HM Chung, BHY	2016	29
	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	88

Showing results 41 to 58 of 58 < previous