Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
147
 
2010
170
 
2011
168
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
86
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
55
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:Birth Defects Research Part A: Clinical and Molecular Teratology
2012
179
 
Gene network analysis of candidate loci for human anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
59
 
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006
2006
105
 
Genetic profile of a multiplex Hirschsprung disease family
Proceeding/Conference:American Society of Human Genetics (ASHG) 2019 Annual Meeting
2019
103
 
2016
130
 
2010
279
 
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
269
2009
242
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
150
 
2012
222
Genome-wide copy number variation in anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
67
 
2013
96
 
2009
185
 
2010
210
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
217