Browsing by Author So, MT

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TitleAuthor(s)Issue Date
 
2019
 
2013
 
Deciphering the genetic basis of Hirschsprung disease by whole genome sequencing
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016
2016
 
Epidemiological and genetic analysis of Banglaeshi Hirschsprung disease patients (Poster presentation)
Proceeding/Conference:The 5th International Symposium on Development of the Enteric Nervous System: cells, signals genes and therapy, 2018
2018
 
2018
 
2007
 
2005
Fine mapping of the NRG1 Hirschsprung's-associated gene
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010
2010
 
2009
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
 
2018
 
Integrating genetic analysis with phenotypes of biliary atresia
Proceeding/Conference:European Human Genetics Conference, ESHG 2015
2015
 
MNX1 (HLXB9) mutations in Currarino patients
Journal:Journal of Pediatric Surgery
2009
 
Mutational analysis of SHH and GLI3 in anorectal malformations
Journal:Birth Defects Research Part A - Clinical and Molecular Teratology
2008
 
2012
 
De novo mutations associated with sporadic cases of Caudal regresion syndrome
Proceeding/Conference:European Journal of Human Genetics
2014
 
2017
 
2008
 
2006
 
2016