ORA - Oxford University Research Archive

1 - 10 of 10

1

Journal article

Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.

Cader, MZ, Ren, J, James, PA, et al.
2007-06-05

2

Journal article

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Lesca, G, Rudolf, G, Bruneau, N, et al.
2013-09-05

3

Journal article

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies, WI, Downes, SM, Fu, JK, et al.
2012-11-05

4

Journal article

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Brownlow, S, Webster, R, Croxen, R, et al.
2001-07-05

5

Journal article

The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.

Godinho, SI, Maywood, ES, Shaw, L, et al.
2007-05-05

6

Journal article

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke, G, Cossins, J, Maxwell, S, et al.
2003-09-05

7

Journal article

Anion sensitivity and spectral tuning of middle- and long-wavelength-sensitive (MWS/LWS) visual pigments.

Davies, WI, Wilkie, SE, Cowing, JA, et al.
2012-07-05

8

Journal article

The effect of BDNF val66met polymorphism on visuomotor adaptation.

Joundi, RA, Lopez-Alonso, V, Lago, A, et al.
2012-11-05

9

Journal article

Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.

Zeggini, E, Parkinson, JR, Halford, S, et al.
2005-12-05

10

Journal article

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Vester, A, Velez-Ruiz, G, McLaughlin, HM, et al.
2013-01-05

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