A novel method for rapid genomic walking using lambda vectors.

Yazar: Sandford, R N, Elgar, G S
Baskı/Yayın Bilgisi 1992

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

Yazar: Green, A J, Sandford, R N, Davison, B C
Baskı/Yayın Bilgisi 1996

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

Yazar: Thomas, R, McConnell, R, Whittacker, J, Kirkpatrick, P, Bradley, J, Sandford, R
Baskı/Yayın Bilgisi 1999

A novel 9 kDa phosphoprotein is a component of the primary cilium and interacts with polycystin-1

Yazar: Osborn, DPS, Boucher, C, Wilson, P, Gattone, V, Beales, PL, Drummond, I, Sandford, R
Baskı/Yayın Bilgisi 2012

Agreement of triage decisions between gastroenterologists and nurses in a hospital endoscopy unit

Yazar: Inns S, Wong J, McPhedran D, De Guzman G, Broome K, Sim D, Sandford R
Baskı/Yayın Bilgisi 2018-10-01

The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.

Yazar: Bycroft, M, Bateman, A, Clarke, J, Hamill, S J, Sandford, R, Thomas, R L, Chothia, C
Baskı/Yayın Bilgisi 1999

High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial

Yazar: El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F
Yayımlandı QJM (2020)

High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial

Yazar: El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F
Yayımlandı QJM (2020)

The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis

Yazar: Dyson, J. K, Wilkinson, N., Jopson, L., Mells, G., Bathgate, A., Heneghan, M. A., Neuberger, J., Hirschfield, G. M., Ducker, S. J., Sandford, R., Alexander, G., Stocken, D., Jones, D. E. J.
Yayımlandı Aliment Pharmacol Ther (2016)

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

Yazar: Polke, J.M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V.S., Houlden, H., Chamley, S.C., Blake, J., DeVile, C., Sandford, R., Sweeney, M.G., Davis, M.B., Reilly, M.M.
Baskı/Yayın Bilgisi 2011

Large-scale discovery of novel genetic causes of developmental disorders

Yazar: Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, McRae, J, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Baralle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dominiczak, A, Donnelly, C, Donnelly, D, Douglas, A, Duncan, A, Eason, J, Edkins, S, Ellard, S, Ellis, P, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Fu, B, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gomes Pereira, SL, Goodship, J, Goudie, D, Gray, E, Greene, P, Greenhalgh, L, Harrison, L, Hawkins, R, Hellens, S, Henderson, A, Hobson, E, Holden, S, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Ingram, S, Irving, M, Jarvis, J, Jenkins, L, Johnson, D, Jones, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kerr, B, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McKee, S, McMullan, DJ, McNerlan, S, Mehta, S, Metcalfe, K, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morris, A, Morton, J, Mugalaasi, H, Murday, V, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Park, S, Parker, MJ, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, Porteous, D, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Ragge, N, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, G, Roberts, J, Roberts, P, Ross, A, Rosser, E, Saggar, A, Samant, S, Sandford, R, Sarkar, A, Schweiger, S, Scott, C, Scott, R, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Simonic, I, Simpkin, D, Singzon, R, Skitt, Z, Smith, A, Smith, B, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tolmie, J, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Vasudevan, P, Vogt, J, Wakeling, E, Walker, D, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Williams, D, Williams, N, Woods, G, Wragg, C, Wright, M, Yang, F, Yau, M, Carter, NP, Parker, M, Firth, HV, FitzPatrick, DR, Wright, CF, Barrett, JC, Hurles, ME
Yayımlandı Nature (2014)