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Showing results 1 to 6 of 6

	Title	Author(s)	Issue Date	Views
	Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease Journal:Human Mutation	Matera, I Musso, M Griseri, P Rusmini, M Duca, MD So, MT Mavilio, D Miao, X Tam, PKH Ravazzolo, R Ceccherini, I Garcia-Barcelo, MM	2013	35
	Exonic de novo mutations in sporadic Hirschsprung disease Proceeding/Conference:European Journal of Human Genetics	Hofstra, RMW Gui, H Schriemer, D Griseri, P Pelet, A Ruiz-Ferrer, M Berrios, C van Ijcken, W van den Hout, M Tam, PKH Cheng, W Tang, SM Eggen, BJL Matera, I Ceccherini, I Amiel, J Lyonnet, S Antinolo, G Borrego, S Chakravarti, A Garcia-Barcelo, MM	2014	49
	Genetics of enteric neuropathies Journal:Developmental Biology	Brosens, E Burns, AJ Brooks, A Matera, I Borrego, S Ceccherini, I Tam, PKH Garcia-Barcelo, MM Thapar, N Benninga, MA Hofstra, RMW Alves, MM	2016	57
	Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients Proceeding/Conference:European Journal of Human Genetics	Gui, H Schriemer, D Eggen, BJL Hofstra, RMW van Ijcken, W van den Hout, M Griseri, P Matera, I Ceccherini, I Pelet, A Amiel, J Lyonnet, S Garcia-Barcelo, M Tam, PKH Ruiz-Ferrer, M Antinolo, G Borrego, S Berrios, C Chakravarti, A	2013	136
	Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease Journal:Human Molecular Genetics	Tang, SM Gui, H Kapoor, A Kim, JH Luzon-Toro, B Pelet, A Burzynski, G Lantieri, F So, MT Berrios, C Shin, HD Fernandez, RM Le, TL Verheij, JBGM Matera, I Cherny, SS Nandakumar, P Cheong, HS Antinolo, G Amiel, J Seo, JM Kim, DY Oh, JT Lyonnet, S Borrego, S Ceccherini, I Hofstra, RMW Chakravarti, A Kim, HY Sham, PC Tam, PKH Garcia-Barcelo, MM	2016	103
	Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Journal:Genome Biology	Gui, H Schriemer, D Cheng, WC Chauhan, RK Antinolo, G Berrios, C Bleda, M Brooks, AS Brouwer, RWW Burns, AJ Cherny, SS Dopazo, J Eggen, BJL Griseri, P Jalloh, B Le, TL Lui, VCH Luzon-Toro, B Matera, I Ngan, ESW Pelet, A Ruiz-Ferrer, M Sham, PC Shepherd, IT So, MT Sribudiani, Y Tang, SM van den Hout, MCGN van der Linde, HC van Ham, TJ van IJcken, WFJ Verheij, JBGM Amiel, J Borrego, S Ceccherini, I Chakravarti, A Lyonnet, S Tam, PKH Garcia-Barcelo, MM Hofstra, RMW	2017	88

Showing results 1 to 6 of 6