Browsing by Author Amiel, J

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Showing results 1 to 16 of 16
TitleAuthor(s)Issue DateViews
 
2015
20
 
2010
78
 
Differential liabilities of coding and non-coding mutations in complex disease
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2005
2005
42
 
2005
57
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceeding/Conference:European Journal of Human Genetics
2014
72
 
1996
64
 
Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease
Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons
1996
58
 
Higher prevalence of Hirschsprung disease in China explained by a common RET mutation
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006
2006
52
 
2008
142
 
2009
33
 
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
Proceeding/Conference:Annual International Congress of the British Association of Paediatric Suregons, BAPS 2006
2006
56
 
2012
59
 
Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
81
2013
65
 
2016
15
 
2017
25