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Showing results 1 to 9 of 9

	Title	Author(s)	Issue Date
	De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019	Gordon, CT Leung, KC Mak, CCY Doherty, D Lin, A Vegas, N Cho, M Dimartino, C Weisfeld-Adams, J Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, Y Troyer, C Kant, S Leung, G Barone, A Yang, S Bend, E Roadhouse, C Zahir, F Stolerman, E Bienvenu, T Orenstein, N Dobyns, W Shieh, J Waggoner, D Gripp, K Parker, M Stoler, J Lyonnet, S Cormiere-Daire, V Viskochil, D Hoffman, T Amiel, J Chung, BHY	2019
	Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability Journal:American Journal of Human Genetics	Emison, ES GarciaBarcelo, M Grice, EA Lantieri, F Amiel, J Burzynski, G Fernandez, RM Hao, L Kashuk, C West, K Miao, X Tam, PKH Griseri, P Ceccherini, I Pelet, A Jannot, AS De Pontual, L HenrionCaude, A Lyonnet, S Verheij, JBGM Hofstra, RMW Antiñolo, G Borrego, S McCallion, AS Chakravarti, A	2010
	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
	Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs disease Journal:Human Molecular Genetics	Amiel, J Attie, T Jan, D Pelet, A Edery, P Bidaud, C Lacombe, D Tam, PKH Simeoni, J Flori, E Nihoul-Fekete, C Munnich, A Lyonnet, S	1996
	Heterozygous endothelin receptor B mutation in isolated Hirschsprung's disease Proceeding/Conference:Annual International Congress of British Association of Paediatric Surgeons	Amiel, J Attie, T Burge, D Griffiths, M Lyonnet, S Tam, PKH	1996
	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
	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
	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
	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

Showing results 1 to 9 of 9