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Showing results 49 to 68 of 69 < previous next >

Title	Author(s)	Issue Date	Views
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis Journal:BMC Medical Genomics	Cheng, G Chung, HY Chan, EKW So, MT Sham, PC Cherny, SS Tam, PKH Garcia-Barcelo, MM	2017	66
Perturbation of Hoxb5 Signaling in Vagal Neural Crests Down-Regulates Ret Leading to Intestinal Hypoganglionosis in Mice Journal:Gastroenterology	Lui, VCH Cheng, WWC Leon, TYY Lau, DKC GarciaBareclo, M Miao, XP Kam, MKM So, MT Chen, Y Wall, NA Sham, MH Tam, PKH	2008	206
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome Journal:Clinical Chemistry	GarciaBarceló, M So, MT Lau, DKC Leon, TYY Yuan, ZW Cai, WS Lui, VCH Fu, M Herbrick, JA Gutter, E Proud, V Li, L PierreLouis, J Aleck, K Van Heurn, E Belloni, E Scherer, SW Tam, PKH	2006	207
Rabbit sex hormone-binding globulin: expression during embryonic development and identification of a noval exon-skipped isoform Proceeding/Conference:Symposium on Post-meiotic Approaches in Male Contraception	Ng, KM So, MT Lee, WWM	2005	89
Rare variants in sporadic Hirschsprung disease patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2015	Tang, SM So, MT Cherny, SS Sham, PC Tam, PKH Garcia-Barcelo, MM	2015	60
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease Journal:Human Molecular Genetics	Miao, X Leon, TYY Ngan, ESW So, MT Yuan, ZW Lui, VCH Chen, Y Wong, KKY Tam, PKH GarciaBarceló, M	2010	176
A RET founder mutation in Chinese hirschsprung's patients Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Cornes, BK Tang, CSM Leon, TYY So, MT Sham, PC Tam, PKH Garcia-Barcelo, MM	2009	149
RET mutational spectrum in Hirschsprung disease: Evaluation of 601 Chinese patients Journal:PLoS ONE	So, MT LeonThomas, YY Cheng, G TangClara, SM Miao, XP Cornes, BK Ngo, DN Cui, L NganElly, SW LuiVincent, CH Wu, XZ Wang, B Wang, H Yuan, ZW Huang, LM Li, L Xia, H Zhu, D Liu, J Nguyen, TL ChanIvy, HY Chung, HY Liu, XL Zhang, R Wong, KKY Sham, PC Cherny, SS Tam, PKH GarciaBarcelo, MM	2011	209
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients Proceeding/Conference:International Congress of Human Genetics, ICHG 2011	Cherny, SS Garcia-Barcelo, MM Leon, TYY So, MT Sham, PC Tam, PKH	2011	171
Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population [9] Journal:Gut	Miao, X GarciaBarceló, MM So, MT Leon, TYY Lau, DKC Liu, TT Chan, EKW Lan, LCL Wong, KKY Lui, VCH Tam, PKH	2007	116
Sacral agenesis: a pilot whole exome sequencing and copy number study Journal:BMC Medical Genetics	Porsch, RM Merello, E De Marco, P Cheng, G Rodriguez, L So, MT Sham, PC Tam, PKH Capra, V Cherny, SS Garcia-Barcelo, MM Campbell, DD	2016	50
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations Journal:Journal of Pediatric Surgery	Ngo, DN So, MT Gui, H Tran, AQ Bui, DH Cherny, S Tam, PKH Nguyen, TL Garcia-Barcelo, MM	2012	78
The role of MAT1A mutation in biliary atresia disease initiation and progression: an iPSC study [Poster presentation] Proceeding/Conference:International Society for Stem Cell Research Annual Meeting 2023 (14/06/2023-17/06/2023, Boston)	Zheng, J So, MT Tang, CSM Chung, PHY Tam, PKH Wong, KKY Lui, VCH	14-Jun-2023
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease Journal:Human Molecular Genetics	Tang, SM Gui, H Kapoor, A Kim, JH Luzon-Toro, B Pelet, A Burzynski, G Lantieri, F So, MT Berrios, C Shin, HD Fernandez, RM Le, TL Verheij, JBGM Matera, I Cherny, SS Nandakumar, P Cheong, HS Antinolo, G Amiel, J Seo, JM Kim, DY Oh, JT Lyonnet, S Borrego, S Ceccherini, I Hofstra, RMW Chakravarti, A Kim, HY Sham, PC Tam, PKH Garcia-Barcelo, MM	2016	103
Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3 Journal:Journal of Pediatric Surgery	Leon, TYY Ngan, ESW Poon, HC So, MT Lui, VCH Tam, PKH GarciaBarcelo, MM	2009	178
TTF-1 and RET promoter SNPs: Regulation of RET transcription in Hirschsprung's disease Journal:Human Molecular Genetics	GarciaBarcelo, M Ganster, RW Lui, VCH Leon, TYY So, MT Lau, AMF Fu, M Sham, MH Knight, J Zannini, MS Sham, PC Tam, PKH	2005	188
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing Journal:European Journal of Human Genetics	Tang, SM Zhuang, X Lam, WY Ngan, ESW HSU, SJ Yu, M So, MT Cherny, SS Ngo, ND Sham, PC Tam, PKH Garcia-Barcelo, MM	2018	80
Whole exome sequencing analysis in biliary atresia: a follow-up study Proceeding/Conference:68th Annual Meeting of the American Society of Human Genetics, 2018	Lam, WY Hsu, SJ Tang, SM So, MT Chung, HY Tam, PKH Garcia-Barcelo, MM	2018	51
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Journal:Genome Biology	Gui, H Schriemer, D Cheng, WC Chauhan, RK Antinolo, G Berrios, C Bleda, M Brooks, AS Brouwer, RWW Burns, AJ Cherny, SS Dopazo, J Eggen, BJL Griseri, P Jalloh, B Le, TL Lui, VCH Luzon-Toro, B Matera, I Ngan, ESW Pelet, A Ruiz-Ferrer, M Sham, PC Shepherd, IT So, MT Sribudiani, Y Tang, SM van den Hout, MCGN van der Linde, HC van Ham, TJ van IJcken, WFJ Verheij, JBGM Amiel, J Borrego, S Ceccherini, I Chakravarti, A Lyonnet, S Tam, PKH Garcia-Barcelo, MM Hofstra, RMW	2017	88
Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia Proceeding/Conference:The 67th Annual Congress of the British Association of Paediatric Surgeons (Virtual), U.K. 7-9 July 2022	Lam, WY So, MT HSU, SJ Chung, HY Ngo, DM Nguyen, PAH Mitchison, HM Jenkins, D O'Callaghan, C Sham, PC Garcia-Barcelo, MM Lui, VCH Tang, SM Tam, PKH	2021	11

Showing results 49 to 68 of 69 < previous next >