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Showing results 44 to 63 of 69 < previous next >

Title	Author(s)	Issue Date	Views
Mapping of a Hirschsprung's disease locus in 3p21 Journal:European Journal of Human Genetics	GarciaBarceló, MM Fong, PY Tang, CS Miao, XP So, MT Yuan, ZW Li, L Guo, WH Liu, L Wang, B Sun, XB Huang, LM Tou, JF Wong, KKY Ngan, ESW Lui, VCH Cherny, SS Sham, PC Tam, PKH	2008	179
MNX1 (HLXB9) mutations in Currarino patients Journal:Journal of Pediatric Surgery	GarciaBarceló, MM Lui, VCH So, MT Miao, X Leon, TYY Yuan, ZW Ngan, ESW Ehsan, T Chung, HY Khong, Pl Wong, KKY Tam, PKH	2009	209
Mutational analysis of SHH and GLI3 in anorectal malformations Journal:Birth Defects Research Part A - Clinical and Molecular Teratology	GarciaBarceló, MM Lui, VCH Miao, X So, MT Leon, TYY Yuan, ZW Li, L Liu, L Wang, B Sun, XB Huang, LM Tou, JF Ngan, ESW Cherny, SS Chan, KW Lee, KH Wang, W Wong, KKY Tam, PKH	2008	144
Mutations in the NRG1 gene are associated with Hirschsprung disease Journal:Human Genetics	Tang, CSM Ngan, ESW Tang, WK So, MT Cheng, G Miao, XP Leon, TYY Leung, BMC Hui, KJWS Lui, VHC Chen, Y Chan, IHY Chung, HY Liu, XL Wong, KKY Sham, PC Cherny, SS Tam, PKH GarciaBarcelo, MM	2012	190
De novo mutations associated with sporadic cases of Caudal regresion syndrome Proceeding/Conference:European Journal of Human Genetics	Porsch, RM Merello, E De Marco, P So, MT Sham, PC Tam, PKH Cherny, SS Capra, V Garcia-Barcelo, MM Campbell, DD	2014	57
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

Showing results 44 to 63 of 69 < previous next >