Showing 1 - 5 results of 5 for search 'Savige, J', query time: 0.02s
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The Bartter-Gitelman spectrum: 50-year follow-up with revision of diagnosis after whole-genome sequencing by Stevenson, M, Pagnamenta, AT, Mack, HG, Savige, J, Giacopuzzi, E, Lines, KE, Taylor, JC, Thakker, RV
Published 2022Journal article -
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The importance of clinician, patient and researcher collaborations in Alport syndrome by Rheault, MN, Savige, J, Randles, MJ, Weinstock, A, Stepney, M, Turner, AN, Parziale, G, Gross, O, Flinter, FA, Miner, JH, Lagas, S, Gear, S, Lennon, R
Published 2019Journal article -
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Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). by Povey, S, Al Aqeel, A, Cambon-Thomsen, A, Dalgleish, R, den Dunnen, J, Firth, H, Greenblatt, MS, Barash, C, Parker, M, Patrinos, G, Savige, J, Sobrido, M, Winship, I, Cotton, R
Published 2010Journal article -
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The 2014International Workshop on Alport Syndrome. by Miner, J, Baigent, C, Flinter, F, Gross, O, Judge, P, Kashtan, C, Lagas, S, Savige, J, Blatt, D, Ding, J, Gale, D, Midgley, J, Povey, S, Prunotto, M, Renault, D, Skelding, J, Turner, A, Gear, S
Published 2014Journal article -
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome by Gross, O, Kashtan, C, Rheault, M, Flinter, F, Savige, J, Miner, J, Torra, R, Ars, E, Deltas, C, Savva, I, Perin, L, Renieri, A, Ariani, F, Mari, F, Baigent, C, Judge, P, Knebelman, B, Heidet, L, Lagas, S, Blatt, D, Ding, J, Zhang, Y, Gale, D, Prunotto, M, Xue, Y, Schachter, A, Morton, L, Blem, J, Huang, M, Liu, S, Vallee, S, Renault, D, Schifter, J, Skelding, J, Gear, S, Friede, T, Turner, A, Lennon, R
Published 2016Journal article