Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
MNX1 (HLXB9) mutations in Currarino patients
Journal:Journal of Pediatric Surgery
2009
102
 
Mapping of a Hirschsprung's disease locus in 3p21
Journal:European Journal of Human Genetics
2008
166
 
2010
82
 
Integrating genetic analysis with phenotypes of biliary atresia
Proceeding/Conference:European Human Genetics Conference, ESHG 2015
2015
46
 
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
100
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
152
 
2010
109
 
2009
136
 
2013
144
Genome-wide copy number variation in anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012
2012
65
 
2012
177
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceeding/Conference:International Congress of Human Genetics, ICHG 2011
2011
116
2009
407
 
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
138
 
2010
189
 
2016
18
 
Genetic mapping for RET-dependent modifiers in Hirschsprung disease (HSCR)
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006
2006
62
 
Gene network analysis of candidate loci for human anorectal malformations
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
60
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:Birth Defects Research Part A: Clinical and Molecular Teratology
2012
276
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
79