HKU Scholars Hub: Browsing DSpace

Browsing "Department of Paediatrics & Adolescent Medicine" by Title

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 3436 to 3455 of 5508 < previous next >

Title	Author(s)	Issue Date	Views
Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019	Kwong, KY RODENBURG, RJT SMEITINK, J Fung, CW	2019	2
Mutation origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala Journal:Archives of neurology	Martins, S Soong, BW Wong, VCN Giunti, P Stevanin, G Ranum, LPW Sasaki, H Riess, O Tsuji, S Countinho, P Amorim, A Sequeiros, J Nicholson, GA	2012	188
Mutation studies of Chinese patients with Wiskott-Aldrich Syndrome Proceeding/Conference:Hong Kong Journal of Paediatrics (New Series)	Hui, YF Chan, SY Lau, YL	1997	120
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity Journal:Journal of Human Genetics	Mak, CM Lam, CW Tam, S Lai, CL Chan, LY Fan, ST Lau, YL Lai, JY Yuen, P Hui, J Fu, CC Wong, KS Mak, WL Tze, K Tong, SF Lau, A Leung, N Hui, A Cheung, KM Ko, CH Chan, YK Ma, O Chau, TN Chiu, A Chan, YW	2008
Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients Journal:Human Mutation	Prattichizzo, C Macca, M Novelli, V Giorgio, G Barra, A Franco, B Abdulla, F Abramowicz, M Amy, S Schafer, I Bankier, A White, S Barcina, MG Bartoshesky, LE Jenny, K Beemer, FA Benke, P Betz, RC Bianchini, G Garavelli, L Bigoni, S Bird, L Chibuk, J MasserFrye, D Brunetti, N Scarcella, A Brunner, HG Burn, J Carmi, R Castellan, C Castelluccio, P Castle, B Chiong, MA Cutiongco, EM Collins, F Couchon, E Curry, A Pastore, M Curry, C Swenerton, A Treisman, T Dean, J Devriendt, K Matthijs, G Dunlap, JW Shashi, V Elcioglu, N Farndon, P Ferrero, GB Ferrier, R Foulds, N Friedman, JM Gal, A Orth, U Gardner, M Gerola, O GillessenKaesbach, G Giuliano, F TurcCarel, C Gödde, E Graber, V Graham, GE Gurrieri, F Harbour, L Henderson, A Jones, E Heran, H Homfray, T Taylor, R Iwarsson, E Jensen, P JezelaStanek, A Joss, S Taylor, G Keeling, SL Klatt, R Teebi, A KlehrMartinelli, M Kotzot, D Lees, M Loughlin, S Lhotta, K Macdonald, F Mari, F Renieri, A Marlin, S Mcgaughran, J Mckenzie, F Mcleod, DR Megarbane, A Mota, CR Mucke, J Tzschach, A Obersztyn, E Okhowat, R Shinzel, A Pfau, R Pober, B Raymond, FL Reich, E Reimschisel, T Robertson, J Roggenbuck, J Sabato, A Sanchez Del Pozo, J SchellApacik, C Schwaab, E Selicorni, A Sell, S Smithson, S StrayPedersen, A Tan, T Thiese, H Tol, J Toprak, O Trump, D Whittaker, J Williams, D Zelante, L Zoll, B	2008	85
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	61
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	9
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta Journal:Clinical Genetics	Moosa, S Chung, BHY Tung, YL Altmuller, J Thiele, H Nürnberg, P Netzer, C Nishimura, G Wollnik, B	2016
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia Journal:American Journal of Human Genetics	CamposXavier, AB Martinet, D Bateman, J Belluoccio, D Rowley, L Tan, TY Baxová, A Gustavson, KH Borochowitz, ZU Innes, AM Unger, S Beckmann, JS Mittaz, L Ballhausen, D SupertiFurga, A Savarirayan, R Bonafé, L	2009	70
Mutations in the human mannose binding protein gene: Their frequencies in three distinct populations and relationship to serum levels of the protein Journal:Immunodeficiency	Turner, MW Lipscombe, RJ Levinsky, RJ Lau, YL Hill, AVS Summerfield, JA Sumiya, M	1993	91
Mutations in the human mannose-binding protein gene: frequencies in several population groups Journal:European Journal of Human Genetics	Lipscombe, RJ Beatty, DW Ganczakowski, M Goddard, EA Jenkins, T Lau, YL Spurdle, AB Sumiya, M Summerfield, JA Turner, MW	1996	195
Mutations in the humanmannose binding protein gene: their frequencies in three distinct populations and relationship to serum levels of the protein Journal:Immunodeficiency	Turner, MW Lipscombe, RJ Levinsky, RJ Hill, AVS Summerfield, JA Sumiya, M Lau, YL	1993	104
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Journal:Nature Genetics	Rice, GI Bond, J Asipu, A Brunette, RL Manfield, IW Carr, IM Fuller, JC Jackson, RM Lamb, T Briggs, TA Ali, M Gornall, H Couthard, LR Aeby, A AttardMontalto, SP Bertini, E Bodemer, C Brockmann, K Brueton, LA Corry, PC Desguerre, I Fazzi, E Cazorla, AG Gener, B Hamel, BCJ Heiberg, A Hunter, M Van Der Knaap, MS Kumar, R Lagae, L Landrieu, PG Lourenco, CM Marom, D Mcdermott, MF Van Der Merwe, W Orcesi, S Prendiville, JS Rasmussen, M Shalev, SA Soler, DM Shinawi, M Spiegel, R Tan, TY Vanderver, A Wakeling, EL Wassmer, E Whittaker, E Lebon, P Stetson, DB Bonthron, DT Crow, YJ	2009	79
Mutations of the CYP11B2 Gene in a Patient with Corticosterone Methyloxidase Type II Deficiencey Proceeding/Conference:Annual Meeting of the Endocrine Society, ENDO 2001	Cheung, PT Yau, L Kwan, EYW Low, LCK	2001	80
MXD1 regulates the H9N2 and H1N1 influenza A virus–induced chemokine expression and their replications in human macrophage Journal:Journal of Leukocyte Biology	Yim, HCH Leon, TYY Li, JCB	2020
My 30-year roadmap for pediatric myasthenia gravis in Hong Kong: Searching for international collaboration Journal:Clinical and Experimental Neuroimmunology	Wong, VCN	2015
Myasthenia gravis Journal:Essential evidence	Wong, VCN	2009
Myasthenia gravis in Hong Kong Chinese. 2. Paediatric disease Journal:Acta Neurologica Scandinavica	Wong, V Hawkins, BR Yu, YL	1992	188
Myasthenia gravis in Hong Kong Chinese. I. Epidemiology and adult disease Journal:Acta Neurologica Scandinavica	Yu, YL Hawkins, BR Ip, MSM Wong, V Woo, E	1992
Mycobacterial and Candida Infections in a Patient with Novel Dominant Negative Mutation of STAT1 Linker Domain Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Mao, H Lee, PPW Yang, W Ling, MT Chan, KW Ho, MHK Lee, TL Tu, W Lau, YL	2014

Showing results 3436 to 3455 of 5508 < previous next >