Browsing by Author Amiel, J

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Showing results 1 to 19 of 19
TitleAuthor(s)Issue DateViews
 
2016
57
 
2019
123
 
2010
157
 
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
129
 
2005
159
 
Exonic de novo mutations in sporadic Hirschsprung disease
Proceeding/Conference:European Journal of Human Genetics
2014
77
 
1996
144
 
Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease
Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons
1996
160
 
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
126
 
2008
204
 
2009
84
 
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
122
 
2012
73
 
2018
90
 
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
95
 
2020
29
2013
109
 
2016
97
 
2017
90