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Showing results 1 to 9 of 9

	Title	Author(s)	Issue Date
	A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease Journal:PLoS Genetics	Mederer, T Schmitteckert, S Volz, J Martinez, C Roth, R Thumberger, T Eckstein, V Scheuerer, J Thoni, C Lasitschka, F Carstensen, L Gunther, P Holland-Cunz, S Hofstra, R Brosens, E Rosenfeld, JA Schaaf, CP Schriemer, D Ceccherini, I Rusmini, M Tilghman, J Luzon-Toro, B Torroglosa, A Borrego, S Tang, CSM Garcia-Barcelo, MM Tam, P Paramasivam, N Bewerunge-Hudler, M De La Torre, C Gretz, N Rappold, GA Romero, P Niesler, B McCallion, AS	2020
	Differential liabilities of coding and non-coding mutations in complex disease Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2005	Burzynski, G Amiel, J Antinolo, G Borrego,, S Ceccherini, I Emison, E Eng, C Fernandez, R Garcia-Barcelo, MM Griseri, P Hofstra, R Kashuk, C Lantieri, F Lyonnet, S Tam, PKH Tullio-Pelet, A West, K Chakravarti, A	2005
	Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases Proceeding/Conference:GRC on Human Genetics & Genomics	Emison, E Burzynski, G Amiel, J Borrego, S Ceccherini,, I Fernandez, R Garcia-Barcelo, MM Griseri, P Hofstra, R Kashuk, CS Lantieri, F Lyonnet, S Tam, PKH Pecina, A Tullio-Pelet,, A West, K Chakravarti, A	2005
	Fine mapping of Hirschsprung’s disease loci in 9q31 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Cherny, SS Tang, CSM Sribudiani, Y Miao, XP So, MT Sham, PC Tam, PKH Garcia-Barcelo, MM Hofstra, R	2009
	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	Garcia-Barcelo, MM Amiel, J Antinolo, G Borrego, S Burzynski, G Ceccherini, I Emison, E Eng, C Fernandez, R Griseri, P Hofstra, R Kashuk, C Lantien, F Lyonnet, S Miao, X Tam, PKH Tullio-Pelet, A West, K Chakravarti, A	2006
	Incidence of RET mutations in patients with Hirschsprung's disease Journal:Journal of Pediatric Surgery	Sancandi, T Ceccherini, I Costa, M Fava, M Chen, B Wu, Y Hofstra, R Laurie, T Griffths, M Burge, D Tam, PKH	2000
	Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association Journal:Human Mutation	Arnold, S Pelet, A Amiel, J Borrego, S Hofstra, R Tam, PKH Ceccherini, I Lyonnet, S Sherman, S Chakravarti, A	2009
	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	Tam, PKH Garcia-Barcelo, MM Tullio-Pelet, A Lyonnet, S Lantieri, F Kashuk, C Hofstra, R Griseri, P Fernandez, R Eng, C Emison, E Burzynski, G Ceccherini, I Borrego, S Antinolo, G Amiel, J West, K Chakravarti, A	2006
	Population-based study of the incidence of RET mutations in Hirschsprung's disease patients Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons	Tam, PKH Sancandi, M Costa, M Ceccherini, I Hofstra, R Chen, B Griffths, M Burge, D	1999

Showing results 1 to 9 of 9