Results 1 to 12 of 12
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TypeTitleAuthor(s)YearViews
De novo mutations associated with sporadic cases of Caudal regresion syndrome
Proceedings/Conference:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Porsch, RM; Merello, E; De Marco, P; So, MT; Sham, PC; Tam, PKH; Cherny, SS; Capra, V; Garcia-Barcelo, MM; Campbell, DD201427
 
Gene network analysis of candidate loci for human anorectal malformations
Proceedings/Conference:
63rd ASHG Annual Meeting Poster Abstracts 2013
Publisher:
American Society of Human Genetics (ASHG).
Garcia-Barcelo, MM; Wong, HEM; Ng, CL; Lui, VCH; So, MT; Cherny, SS; Sham, PC; Tam, PK201344
 
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia
Proceedings/Conference:
Annual Meeting of American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics
Garcia-Barcelo, MM; Cheng, G; Tang, CSM; Liu, X; Zhang, R; So, MT; Wong, EHM; Chung, PHY; Chan, IHY; Liu, J; Zhong, W; Xia, H; Yu, J; Wong, KKY; Cherny, SS; Sham, PC; Tam, PKH2012141
 
Genome-wide copy number variation in anorectal malformations
Proceedings/Conference:
Annual Meeting of American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics.
Cherny, SS; Wong, EHM; Cui, L; Ng, CL; Tang, CSM; So, MT; Yip, BHK; Cheng, G; Lui, VCH; Sham, PC; Tam, PKH; Garcia-Barcelo, MM2012120
 
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceedings/Conference:
12th ICHG 2011 Meeting
Publisher:
American Society of Human Genetics/ICHG 2011 Meeting Management Office.
Garcia-Barcelo, M; Tang, CSM; So, MT; Marshall, CR; Scherer, S; Cherny, S; Sham, P; Tam, P2011175
 
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients
Proceedings/Conference:
International Congress of Human Genetics, ICHG 2011
Publisher:
American Society of Human Genetics.
Cherny, SS; Garcia-Barcelo, MM; Leon, TYY; So, MT; Sham, PC; Tam, PKH2011194
 
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2010
Publisher:
The American Society of Human Genetics.
Garcia-Barcelo, MM; Tang, C; Tang, WK; So, MT; Sham, PC; Cherny, SS; Tam, PH2010165
 
Identification of rare variants in the NRG1 gene of Hirschsprung's patients
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics
Publisher:
The American Society of Human Genetics.
Garcia-Barcelo, MM; Tang, WK; Miao, XP; Tang, CSM; So, MT; Leon, YY; Sham, PC; Cherny, SS; Tam, PKH2009245
 
A RET founder mutation in Chinese hirschsprung's patients
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics
Publisher:
The American Society of Human Genetics.
Cornes, BK; Tang, CSM; Leon, TYY; So, MT; Sham, PC; Tam, PKH; Garcia-Barcelo, MM2009155
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics
Publisher:
The American Society of Human Genetics.
Cherny, SS; Tang, CSM; Sribudiani, Y; Miao, XP; So, MT; Sham, PC; Tam, PKH; Garcia-Barcelo, MM; Hofstra, R2009311
 
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Proceedings/Conference:
NEUROGASTROENTEROLOGY AND MOTILITY
Publisher:
Wiley-Blackwell. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1350-1925&site=1
Tam, PKH; Tang, CSM; Ngan, ESW; Lui, VCH; Chen, Y; So, MT; Leon, TYY; Miao, XP; Shum, CKY; Liu, FQ; Yeung, MY; Yuan, ZW; Guo, WH; Liu, L; Sun, XB; Huang, LM; Tou, JF; Song, YQ; Chan, D; Cheung, KMC; Wong, KKY; Cherny, SS; Sham, PC; Garcia-Barcelo, MM2009203
 
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)
Proceedings/Conference:
56th Annual Meeting of the American Society of Human Genetics, New Orleans, U.S.A., 9-13 October 2006
Fong, PY; Garcia-Barcelo, MM; Sham, PC; Ng, PKM; Lau, CF; So, MT; Mak, WW; Tam, PKH2006136
 
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