HKU Scholars Hub: Browsing DSpace

Browsing by Author Thevenon, J

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 1 to 3 of 3

	Title	Author(s)	Issue Date	Views
	Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management Journal:Clinical Genetics	Avila, M Dyment, DA Sagen, JV St-Onge, J Moog, U Chung, BHY Mansour, S Albanese, A Garcia,, S Ortiz Martin, D Lopez, AA Claudi, T König, R White, SM Sawyer, SL Bernstein, JA Slattery, L Jobling, RK Yoon, G Curry, CJ Le Merrer, M Le Luyer, B Héron, D Mathieu-Dramard, M Bitoun, P Odent, S Amiel, J Kuentz, P Thevenon, J Laville, M Reznik, Y Fagour, C Nunes, ML Delesalle, D Manouvrier, S Lascols, O Huet, F Binquet, C Faivre, L Rivière, JB Vigouroux, C Njølstad, PR Innes, AC Thauvin-Robinet, C	2016	61
	Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Journal:Human Mutation	Vegas, N Demir, Z Gordon, CT Breton, S Romanelli Tavares, VL Moisset, H Zechi-Ceide, R Kokitsu-Nakata, NM Kido, Y Marlin, S Gherbi Halem, S Meerschaut, L Callewaert, B Chung, BHY Revencu, N Lehalle, D Petit, F Propst, EJ Papsin, BC Phillips, JH Jakobsen, L Le Tanno, P Thevenon, J McGaughran, J Gerkes, EH Leoni, C Kroisel, P Tan, TY Henderson, A Terhal, P Basel-Salmon, L Alkindy, A White, SM Passos-Bueno, MR Pingault, V De Pontual, L Amiel, J	2022	8
	Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development Journal:Neuron	Lennox, AL Hoye, ML Jiang, R Johnson-Kerner, BL Suit, LA Venkataramanan, S Sheehan, CJ Alsina, FC Fregeau, B Aldinger, KA Moey, C Lobach, I Afenjar, A Babovic-Vuksanovic, D Bezieau, S Blackburn, PR Bunt, J Burglen, L Campeau, PM Charles, P Chung, BHY Cogne, B Curry, C D'Agostino, MD Di Donato, N Faivre, L Heron, D Innes, AM Isidor, B Keren, B Kimball, A Klee, EW Kuentz, P Kury, S Martin-Coignard, D Mirzaa, G Mignot, C Myake, N Matsumoto, N Fujita, A Nava, C Nizon, M Rodriguez, D Blok, LS Thauvin-Robinet, C Thevenon, J Vincent, M Ziegler, A Dobyns, W Richards, LJ Barkovich, AJ Floor, SN Silver, DL Sherr, EH	2020	43

Showing results 1 to 3 of 3