Showing 1 - 20 results of 20 for search 'Hughes, I', query time: 0.05s
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Degenerate four-wave mixing spectroscopy and spectral simulation of C-2 in an atmospheric pressure oxy-acetylene flame by Kaminski, C, Hughes, I, Ewart, P
Published 1997Journal article -
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Broadband degenerate four-wave mixing of OH for flame thermometry by Lloyd, G, Hughes, I, Bratfalean, R, Ewart, P
Published 1998Journal article -
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OBSERVATION OF THE COLLAPSE AND FRACTIONAL REVIVAL OF A RYDBERG WAVEPACKET IN ATOMIC RUBIDIUM by Meacher, D, Meyler, P, Hughes, I, Ewart, P
Published 1991Journal article -
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Thermometry of an oxy-acetylene flame using multiplex degenerate four-wave mixing of C-2 by Kaminski, C, Hughes, I, Lloyd, G, Ewart, P
Published 1996Journal article -
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Occupational therapists, physiotherapists and orthopaedic surgeons agree on the decision for carpal tunnel surgery by Lewis, K, Coppieters, M, Vicenzino, B, Hughes, I, Ross, L, Schmid, A
Published 2020Journal article -
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Polarization spectroscopy in rubidium and cesium by Harris, M, Adams, C, Cornish, S, McLeod, I, Tarleton, E, Hughes, I
Published 2006Journal article -
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Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. by Pearce, S, Trump, D, Wooding, C, Besser, G, Chew, S, Grant, D, Heath, D, Hughes, I, Paterson, C, Whyte, M
Published 1995Journal article -
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Effects of recombinant leptin therapy in a child with congenital leptin deficiency. by Farooqi, I, Jebb, SA, Langmack, G, Lawrence, E, Cheetham, C, Prentice, A, Hughes, I, McCamish, M, O'Rahilly, S
Published 1999Journal article -
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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter by Rodríguez Cruz, PM, Hughes, I, Manzur, A, Munot, P, Ramdas, S, Wright, R, Breen, C, Pitt, M, Pagnamenta, AT, Taylor, JC, Palace, J, Beeson, D
Published 2020Journal article -
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. by Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, E, Birks, J, Brown, G, Sewry, C, McDermott, M, Muntoni, F, Poulton, J
Published 2011Journal article -
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Reversible Infantile Respiratory Chain Deficiency is a Genetically Heterogenous Mitochondrial Disease by Joanna, P, Jungbluth, H, Fatter, C, Fernandez-Vizarra Bailey, E, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, E, Birks, J, Brown, G, Sewry, C, Muntoni, F, Uusimaa, J
Published 2011Conference item -
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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study by Aragon-Gawinska, K, Seferian, AM, Daron, A, Gargaun, E, Vuillerot, C, Cances, C, Ropars, J, Chouchane, M, Cuppen, I, Hughes, I, Illingworth, M, Marini-Bettolo, C, Rambaud, J, Taytard, J, Annoussamy, M, Scoto, M, Gidaro, T, Servais, LJP
Published 2018Journal article -
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The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study by Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R
Published 2019Conference item -
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The phenotypic continuum of ATP1A3-related disorders by Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M
Published 2022Journal article -
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Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study by Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
Published 2019Journal article -
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GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome by Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Böhm, J, Jaiswal, JK, Stojkovic, T, Bönnemann, CG
Published 2020Journal article