Browsing by Author Amiel, J

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 12 of 12
TitleAuthor(s)Issue DateViews
 
2013
101
 
2010
789
 
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.
Proceeding/Conference:Gordon Research Conference on Human Genetics and Genomics Salve Regina University Newport, RI, USA, July 24-29, 2005
2005
210
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceeding/Conference:European Journal of Human Genetics
2014
64
 
1996
164
 
Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease
Proceeding/Conference:XLIII Annual International Congress of British Association of Paediatric Surgeons, Jersey, UK, July 1996
1996
166
 
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
Proceeding/Conference:56th Annual Meeting of the American Society of Human Genetics, New Orleans, U.S.A., 9-13 October 2006
2006
193
 
2008
542
 
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
Proceeding/Conference:53rd Annual International Congress of the British Association of Paediatric Suregons, Stockholm, Sweden, 18-21 July 2006
2006
227
 
2012
245
 
Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant
Proceeding/Conference:Golden Jubilee Scientific Meeting of the Department of Paediatrics and Adolescent Medicine, The University of Hong Kong
2014
58
2013
109