HKU Scholars Hub: Browsing DSpace

Browsing by Author Hofstra, RMW

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 8 to 16 of 16 < previous

	Title	Author(s)	Issue Date	Views
	Genes regulating enteric nervous system development are impacted by Copy Number loss and modify penetrance in epistasis with RET Proceeding/Conference:European Journal of Human Genetics	Kuil, L Tang, SM Windster, JD Le, T Karim, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E	2020	5
	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	66
	Hirschsprung disease, associated syndromes and genetics: A review Journal:Journal of Medical Genetics	Amiel, J SproatEmison, E GarciaBarcelo, M Lantieri, F Burzynski, G Borrego, S Pelet, A Arnold, S Miao, X Griseri, P Brooks, AS Antinolo, G De Pontual, L ClementZiza, M Munnich, A Kashuk, C West, K Wong, KKY Lyonnet, S Chakravarti, A Tam, PKH Ceccherini, I Hofstra, RMW Fernandez, R	2008	209
	Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease Journal:European Journal of Human Genetics	Jannot, AS Amiel, J Pelet, A Lantieri, F Fernandez, RM Verheij, JBGM GarciaBarcelo, M Arnold, S Ceccherini, I Borrego, S Hofstra, RMW Tam, PKH Munnich, A Chakravarti, A ClergetDarpoux, F Lyonnet, S	2012	60
	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	152
	Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development Journal:PLoS Genetics	Kuil, LE MacKenzie, KC Tang, CS Windster, JD Le, TL KARIM, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E Editor(s):Barsh, GS	2021	11
	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	122
	White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies Journal:Developmental Biology	Burns, AJ Goldstein, AM Newgreen, DF Stamp, L Schafer, KH Metzger, M Hotta, R Young, HM Andrews, PW Thapar, N Belkind-Gerson, J Bondurand, N Bornstein, JC Chan, WY Cheah, KSE Gershon, MD Heuckeroth, RO Hofstra, RMW Just, L Kapur, RP King, SK McCann, CJ Nagy, N Ngan, ESW Obermayr, F Pachnis, V Pasricha, PJ Sham, MH Tam, PKH Vanden Berghe, P	2016	16
	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	114

Showing results 8 to 16 of 16 < previous