Browsing by Author So, MT

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TitleAuthor(s)Issue DateViews
 
2010
225
 
Identification of a HOXD13 mutation in a VACTERL patient
Journal:American Journal of Medical Genetics, Part A
2008
247
 
2021
10
 
2018
116
 
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
163
 
Integrating genetic analysis with phenotypes of biliary atresia
Proceeding/Conference:European Human Genetics Conference, ESHG 2015
2015
61
 
2010
 
Mapping of a Hirschsprung's disease locus in 3p21
Journal:European Journal of Human Genetics
2008
202
 
MNX1 (HLXB9) mutations in Currarino patients
Journal:Journal of Pediatric Surgery
2009
236
 
Mutational analysis of SHH and GLI3 in anorectal malformations
Journal:Birth Defects Research Part A - Clinical and Molecular Teratology
2008
190
 
2012
215
 
De novo mutations associated with sporadic cases of Caudal regresion syndrome
Proceeding/Conference:European Journal of Human Genetics
2014
71
 
2017
 
2008
109
 
2006
242
 
2005
108
 
Rare variants in sporadic Hirschsprung disease patients
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2015
2015
91
 
2010
196
 
A RET founder mutation in Chinese hirschsprung's patients
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
194
 
2011
227