Browsing by Author Hofstra, R

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Showing results 1 to 7 of 7
TitleAuthor(s)Issue DateViews
 
Differential liabilities of coding and non-coding mutations in complex disease
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics. Salt Lake City, USA, October 25-29 2005.
2005
156
 
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
 
Fine mapping of Hirschsprung’s disease loci in 9q31
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics
2009
342
 
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
 
2000
183
 
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
 
Population-based study of the incidence of RET mutations in Hirschsprung's disease patients
Proceeding/Conference:XLVI Annual International Congress, British Association of Paediatric Surgeons, Liverpool, U.K., July 20-23, 1999
1999
133