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	Title	Author(s)	Issue Date	Views
	Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Journal:American Journal of Human Genetics	Bennett, JT Tan, TY Alcantara, D Tetrault, M Timms, AE Jensen, D Collins, S Nowaczyk, MJM Lindhurst, MJ Christensen, KM Braddock, SR Brandling-Bennett, H Hennekam, RCM Chung, BHY Lehman, A Su, J Ng, SY Amor, DJ Majewski, J Biesecker, LG Boycott, KM Dobyns, WB O'Driscoll, M Moog, U McDonell, LM	2016	60
	Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension Journal:American Journal of Medical Genetics Part A	McDonell, LM Leung, KC Daoud, H Ip, JKJ Chim, S Luk, HM Lan, CLL Care4Rare Canada Consortium Boycott, KM Chung, BHY	2018	64
	MSTO1 Mutations Cause Mtdna Depletion, Manifesting As Muscular Dystrophy With Cerebellar Involvement Journal:Acta Neuropathologica	Donkervoort, S Sabouny, R Yun, P Gauquelin, L Chao, KR Hu, Y AI Khatib, I Topf, A Mohassel, P Cummings, BB Kaur, R Saade, D Moore, SA Waddell, LB Farrar, MA Goodrich, JK Uapinyoying, P Chan, SHS Javed, A Leach, ME Karachunski, P Dalton, J Medne, L Harper, A Thompson, C Thiffault, I Specht, S Lamont, RE Saunders, C Racher, H Bernier, FP Mowat, D Witting, N Vissing, J Hanson, R Coffman, KA Hainlen, M Parboosingh, JS Carnevale, A Yoon, G Schnur, RE Care4Rare Canada Consortium Boycott, KM Mah, JK Straub, V Reghan Foley, A Innes, AM Bönnemann, CG Shutt, TE	2019	50

Showing results 1 to 3 of 3