Browsing by Author Amiel, J

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Showing results 1 to 17 of 17
TitleAuthor(s)Issue DateViews
 
2015
24
 
2010
90
 
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
40
 
2005
57
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceeding/Conference:European Journal of Human Genetics
2014
80
 
1996
66
 
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
54
 
2008
125
 
2009
38
 
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
53
 
2012
47
 
2018
20
 
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
97
2013
86
 
2016
25
 
2017
33