Browsing by Author Amiel, J

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Showing results 1 to 17 of 17
TitleAuthor(s)Issue DateViews
 
2015
23
 
2010
82
 
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
47
 
2005
63
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceeding/Conference:European Journal of Human Genetics
2014
78
 
1996
70
 
Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease
Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons
1996
63
 
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
59
 
2008
152
 
2009
35
 
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
60
 
2012
61
 
2018
8
 
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
92
2013
74
 
2016
19
 
2017
31