Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
Identification of rare variants in the NRG1 gene of Hirschsprung's patients
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
107
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
134
 
2010
421
 
2009
280
 
2013
127
Genome-wide copy number variation in anorectal malformations
Proceeding/Conference:Annual Meeting of American Society of Human Genetics, ASHG 2012
2012
54
 
2012
159
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
102
2009
199
 
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Journal:Proceedings of the National Academy of Sciences of the United States of America
2009
384
 
2010
497
 
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)
Proceeding/Conference:56th Annual Meeting of the American Society of Human Genetics, New Orleans, U.S.A., 9-13 October 2006
2006
63
 
Gene network analysis of candidate loci for human anorectal malformations
Proceeding/Conference:63rd ASHG Annual Meeting Poster Abstracts 2013
2013
43
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:Birth Defects Research Part A: Clinical and Molecular Teratology
2012
260
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia
Proceeding/Conference:Annual Meeting of American Society of Human Genetics, ASHG 2012
2012
63
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
81
 
2011
1749
 
2010
99
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
128
 
2005
44