Showing 1 - 5 results of 5 for search 'Sakaguchi, R', query time: 0.02s
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
2
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
3
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2012Journal article -
4
A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Zuechner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A, Progra, N
Published 2012Journal article -
5
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. by McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A
Published 2010Journal article