Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
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
 
2021
10
 
2018
120
 
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
139
 
Integrating genetic analysis with phenotypes of biliary atresia
Proceeding/Conference:European Human Genetics Conference, ESHG 2015
2015
49
 
2010
139
 
Mapping of a Hirschsprung's disease locus in 3p21
Journal:European Journal of Human Genetics
2008
179
 
MNX1 (HLXB9) mutations in Currarino patients
Journal:Journal of Pediatric Surgery
2009
209
 
Mutational analysis of SHH and GLI3 in anorectal malformations
Journal:Birth Defects Research Part A - Clinical and Molecular Teratology
2008
144
 
2012
190
 
De novo mutations associated with sporadic cases of Caudal regresion syndrome
Proceeding/Conference:European Journal of Human Genetics
2014
57