Browsing by Author Vance, Jefferey M.

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
or enter first few letters:  
Showing results 1 to 3 of 3
Issue DateTitleAuthor(s)Citation
2010Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral NeuropathyNicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Cherukuri, Praveen F.; Chu, Kristine; Cruz, Pedro; Green, Eric D.; Hansen, Nancy F.; Hou, Ya-Ming; Igarashi, Takao; Ionasescu, Victor; Iyer, Ram; Liu, Cuiping; Lupski, James; McLaughlin, Heather M.; Mullikin, James C.; NISC Comparative Sequencing Program, -; Pehlivan, Davut; Sakaguchi, Reiko; Searby, Charles; Szigeti, Kinga; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research InstituteCompound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American Journal of Human Genetics, vol.87, 4,pp 560-566
2009Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKennerson, Marina; Nicholson, Garth; Baets, Jonathan; Berciano, Jose; Berneman, Zwi N.; Bienfait, Henriette; Claeys, Kristl; De Jonghe, Peter; De Veuster, Ilse; De Vriendt, Els; Garcia, Antonio; Lammens, Martin; Merory, John; Nelis, Eva; Storey, Elsdon; Timmerman, Vincent; Vance, Jefferey M.; Verhoeven, Kristien; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePhenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy, Brain, vol.132, 7, 2009,pp 1741-1752
2012A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)Kennerson, Marina; Nicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Giblin, William; Hou, Ya-Ming; Lee, Yi-Chung; Lupski, James; McLaughlin, Heather M.; Sakaguchi, Reiko; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N), Human Mutation, vol.33, 1, 2012,pp 244-253