Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
127
 
2010
414
 
2009
275
 
2013
124
Genome-wide copy number variation in anorectal malformations
Proceeding/Conference:Annual Meeting of American Society of Human Genetics, ASHG 2012
2012
53
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
94
 
2012
149
 
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
371
2009
72
 
2010
482
 
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
59
 
Gene network analysis of candidate loci for human anorectal malformations
Proceeding/Conference:63rd ASHG Annual Meeting Poster Abstracts 2013
2013
42
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:Birth Defects Research Part A: Clinical and Molecular Teratology
2012
182
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia
Proceeding/Conference:Annual Meeting of American Society of Human Genetics, ASHG 2012
2012
60
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
80
 
2011
1743
 
2010
91
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
123
 
2005
38
 
Evaluation of thyroid transcription factor 1 (TTF-1) as a Hirschsprung's disease (HSCR) locus by mutation analysis
Proceeding/Conference:Development of the Enteric Nervous System: Cells, signals and genes, New York, U.S.A., 26-29 March 2006
2006
35