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1Academic Journal
المؤلفون: Alberro, JA, Ballester, B, Deulofeu, P, Fabregas, R, Fraile, M, Gubern, JM, Janer, J, Moral, A, de Pablo, JL, Penalva, G, Puig, P, Ramos, M, Rojo, R, Santesteban, P, Serra, C, Sola, M, Solarnau, L, Solsona, J, Veloso, E, Vidal, S, Abe, O, Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Masuda, H, Nomura, Y, Ohashi, Y, Sakai, K, Sugimachi, K, Toi, M, Tominaga, T, Uchino, J, Yoshida, M, Coles, CE, Haybittle, JL, Mobus, V, Leonard, CF, Calais, G, Garaud, P, Collett, V, Davies, C, Delmestri, A, Sayer, J, Harvey, VJ, Holdaway, IM, Kay, RG, Mason, BH, Forbe, JF, Franci, PA, Wilcken, N, Balic, M, Bartsch, R, Fesl, C, Fitzal, F, Fohler, H, Gnant, M, Greil, R, Jakesz, R, Marth, C, Mlineritsch, B, Pfeiler, G, Singer, CF, Steger, GG, Stoger, H, Canney, P, Yosef, HMA, Focan, C, Peek, U, Oates, GD, Powell, J, Durand, M, Mauriac, L, Di Leo, A, Dolci, S, Larsimont, D, Nogaret, JM, Philippson, C, Piccart, MJ, Masood, MB, Parker, D, Price, JJ, Lindsay, MA, Mackey, J, Martin, M, Hupperets, PSGJ, Bates, T, Blamey, RW, Chetty, U, Ellis, IO, Mallon, E, Morgan, DAL, Patnick, J, Pinder, S, Lohrisch, C, Nichol, A, Bartlett, JMS, Bramwell, VH, Chen, BE, Chia, SKL, Gelmon, K, Goss, PE, Levine, MN, Parulekar, W, Pater, JL, Pritchard, KI, Shepherd, LE, Tu, D, Whelan, T, Berry, D, Broadwater, G, Cirrincione, C, Muss, H, Norton, L, Weiss, RB, Abu-Zahara, HT, Karpov, A, Portnoj, SL, Bowden, S, Brookes, C, Dunn, J, Fernando, I, Lee, M, Poole, C, Rea, D, Spooner, D, Barrett-Lee, PJ, Manse, RE, Monypenny, IJ, Gordon, NH, Davis, HL, Cuzick, J, Sestak, I, Lehingue, Y, Romestaing, P, Dubois, JB, Delozier, T, Griffon, B, Lesec'H, JM, Mustacchi, G, Petruzelka, L, Pribylova, O, Owen, JR, Meier, P, Shan, Y, Shao, YF, Wang, X, Zhao, DB, Howell, A, Swindell, R, Albano, J, de Oliveira, CF, Gervasio, H, Gordilho, J, Ejlertsen, B, Jensen, MB, Mouridsen, H, Gelman, RS, Harris, JR, Hayes, D, Henderson, C, Shapiro, CL, Christiansen, P, Ewertz, M, Mouridsen, HT, Fehm, T, Trampisch, HJ, Dalesio, O, de Vries, EGE, Rodenhuis, S, van Tinteren, H, Comis, RL, Davidson, NE, Gray, R, Robert, N, Sledge, G, Solin, LJ, Sparano, JA, Tormey, DC, Wood, W, Cameron, D, Dixon, JM, Forrest, P, Jack, W, Kunkler, I, Rossbach, J, Klijn, JGM, Treurniet-Donker, AD, van Putten, WLJ, Rotmensz, N, Veronesi, U, Viale, G, Bartelink, H, Bijker, N, Bogaerts, J, Cardoso, F, Cufer, T, Julien, JP, Poortmans, PM, Rutgers, E, van de Velde, CJH, Cunningham, MP, Huovinen, R, Joensuu, H, Costa, A, Bonadonna, G, Gianni, L, Valagussa, P, Goldstein, LJ, Bonneterre, J, Fargeot, P, Fumoleau, P, Kerbrat, P, Lupors, E, Namer, M, Carrasco, E, Segui, MA, Eierman, W, Hilfrich, J, Jonat, W, Kaufmann, M, Kreienberg, R, Schumacher, M, Bastert, G, Rauschecker, H, Sauer, R, Sauerbrei, W, Schauer, A, Blohmer, JU, Costa, SD, Eidtmann, H, Gerber, B, Jackisch, C, Loib, S, von Minckwitz, G, de Schryver, A, Vakaet, L, Belfiglio, M, Nicolucci, A, Pellegrini, F, Pirozzoli, MC, Sacco, M, Valentini, M, McArdle, CS, Smith, DC, Stallard, S, Dent, DM, Gudgeon, CA, Hacking, A, Murray, E, Panieri, E, Werner, ID, De Salvo, GL, Del Bianco, P, Zavagno, G, Leone, B, Vallejo, CT, Zwenger, A, Galligioni, E, Lopez, M, Erazo, A, Medina, JY, Horiguchi, J, Takei, H, Fentiman, IS, Hayward, JL, Rubens, RD, Skilton, D, Scheurlen, H, Sohn, HC, Untch, M, Dafni, U, Markopoulos, C, Bamia, C, Fountzilas, G, Koliou, GA, Manousou, K, Mavroudis, D, Klefstrom, P, Blomqvist, C, Saarto, T, Gallen, M, Canavese, G, Tinterri, C, Margreiter, R, de Lafontan, B, Mihura, J, Roche, H, Asselain, B, Salmon, RJ, Vilcoq, JR, Brain, E, de La Lande, B, Mouret-Fourme, E, Andre, F, Arriagada, R, Delaloge, S, Hill, C, Koscienly, S, Michiels, S, Rubino, C, A'Hern, R, Bliss, J, Ellis, P, Kilburn, L, Yarnold, JR, Benraadt, J, Kooi, M, van de Velde, AO, van Dongen, JA, Vermorken, JB, Castiglione, M, Coates, A, Colleoni, M, Collins, J, Forbes, J, Gelbe, RD, Goldhirsch, A, Lindtner, J, Price, KN, Regan, MM, Rudenstam, CM, Senn, HJ, Thuerlimann, B, Bliss, JM, Chilvers, CED, Coombes, RC, Hall, E, Marty, M, Buyse, M, Possinger, K, Schmid, P, Wallwiener, D, Foster, L, George, WD, Stewart, HJ, Stroner, P, Borovik, R, Hayat, H, Inbar, MJ, Peretz, T, Robinson, E, Camerini, T, Formelli, F, Martelli, G, Di Mauro, MG, Perrone, F, Amadori, D, Martoni, A, Pannuti, F, Camisa, R, Musolino, A, Passalacqua, R, Iwata, H, Shien, T, Ikeda, T, Inokuchi, K, Sawa, K, Sonoo, H, Sadoon, M, Tulusan, AH, Kohno, N, Miyashita, M, Takao, S, Ahn, JH, Jung, KH, Korzeniowski, S, Skolyszewski, J, Ogawa, M, Yamashita, J, Bastiaannet, E, Liefers, GJ, Christiaens, R, Neven, P, Paridaens, R, Van den Bogaert, W, Gazet, JC, Corcoran, N, Deshpande, N, di Martino, L, Douglas, P, Host, H, Lindtner, A, Notter, G, Bryant, AJS, Ewing, GH, Firth, LA, Krushen-Kosloski, JL, Nissen-Meyer, R, Anderson, H, Killander, F, Malmstrom, P, Ryden, L, Arnesson, LG, Carstense, J, Dufmats, M, Fohlin, H, Nordenskjold, B, Soderberg, M, Sundqvist, M, Carpenter, TJ, Murray, N, Royle, GT, Simmonds, PD, Albain, K, Barlow, W, Crowley, J, Gralow, J, Hortobagyi, G, Livingston, R, Martino, S, Osborne, CK, Ravdin, PM, Bergh, J, Bondesso, T, Celebiogl, F, Dahlberg, K, Fornander, T, Fredriksson, I, Frisell, J, Goransson, E, Iiristo, M, Johansson, U, Lenner, E, Lofgren, L, Nikolaidis, P, Perbeck, L, Rotstein, S, Sandelin, K, Skoog, L, Svane, G, af Trampe, E, Wadstrom, C, Janni, W, Maibach, R, Thurlimann, B, Hadji, P, Hozumi, J, Holli, K, Rouhento, K, Safra, T, Brenner, H, Hercbergs, A, Yoshimoto, M, Paterson, AHG, Fyles, A, Meakin, JW, Panzarella, T, Bahi, J, Lemonnier, J, Martin, AL, Reid, M, Spittle, M, Bishop, H, Bundred, NJ, Forbes, JF, Forsyth, S, George, WS, Pinder, SE, Deutsch, GP, Kwong, DLW, Pai, VR, Peto, R, Senanayake, F, Boccardo, F, Rubagotti, A, Baum, M, Hackshaw, A, Houghton, J, Ledermann, J, Monson, K, Tobias, JS, Carlomagno, C, De Laurentiis, M, De Placido, S, Schem, C, Williams, L, Bell, R, Coleman, RE, Dodwell, D, Hinsley, S, Marshall, HC, Pierce, LJ, Basso, SMM, Lumachi, F, Solomayer, E, Horsman, JM, Lester, J, Winter, MC, Buzdar, AU, Hsu, L, Love, RR, Ahlgren, J, Garmo, H, Holmberg, L, Lindman, H, Warnberg, F, Asmar, L, Jones, SE, Aft, R, Gluz, O, Harbeck, N, Liedtke, C, Nitz, U, Litton, A, Wallgren, A, Karlsson, P, Linderholm, BK, Chlebowski, RT, Caffier, H, Brufsky, AM, Llombart, HA
المصدر: The Lancet. Oncology. 19(1):27-39
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Parker R, Allison M, Anderson S, Aspinall R, Bardell S, Bains V, Buchanan R, Corless L, Davidson I, Dundas P, Fernandez J, Forrest E, Forster E, Freshwater D, Gailer R, Goldin R, Hebditch V, Hood S, Jones A, Lavers V, Lindsay D, Maurice J, McDonagh J, Morgan S, Nurun T, Oldroyd C, Oxley E, Pannifex S, Parsons G, Phillips T, Rainford N, Rajoriya N, Richardson P, Ryan J, Sayer J, Smith M, Srivastava A, Stennett E, Towey J, Vaziri R, Webzell I, Wellstead A, Dhanda A, Masson S
المصدر: BMJ Open Gastroenterology, 4 October 2023
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/294338; https://eprints.ncl.ac.uk/fulltext.aspx?url=294338/FA22B38F-3678-4A2B-934B-26FFA3F8BC78.pdf&pub_id=294338
الاتاحة: https://eprints.ncl.ac.uk/294338
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3Academic Journal
المؤلفون: Parker, R., Allison, M., Anderson, S., Aspinall, R., Bardell, S., Bains, V., Buchanan, R., Corless, L., Davidson, I., Dundas, P., Fernandez, J., Forrest, E., Forster, E., Freshwater, D., Gailer, R., Goldin, R., Hebditch, V., Hood, S., Jones, A., Lavers, V., Lindsay, D., Maurice, J., McDonagh, J., Morgan, S., Nurun, T., Oldroyd, C., Oxley, E., Pannifex, S., Parsons, G., Phillips, T., Rainford, N., Rajoriya, N., Richardson, P., Ryan, J., Sayer, J., Smith, M., Srivastava, A., Stennett, E., Towey, J., Vaziri, R., Webzell, I., Wellstead, A., Dhanda, A., Masson, S.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/205025/1/e001221.full.pdf; Parker, R. orcid.org/0000-0003-4888-8670 , Allison, M., Anderson, S. et al. (41 more authors) (2023) Quality standards for the management of alcohol-related liver disease: consensus recommendations from the British Association for the Study of the Liver and British Society of Gastroenterology ARLD special interest group. BMJ Open Gastroenterology, 10 (1). e001221.
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4Academic Journal
المؤلفون: Esson, G, Haslam, P, Sayer, J A
المساهمون: Northern Counties Kidney Research Fund
المصدر: Oxford Medical Case Reports ; volume 2023, issue 3 ; ISSN 2053-8855
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5Academic Journal
المؤلفون: Cordell H. J., Fryett J. J., Ueno K., Darlay R., Aiba Y., Hitomi Y., Kawashima M., Nishida N., Khor S. -S., Gervais O., Kawai Y., Nagasaki M., Tokunaga K., Tang R., Shi Y., Li Z., Juran B. D., Atkinson E. J., Gerussi A., Carbone M., Asselta R., Cheung A., de Andrade M., Baras A., Horowitz J., Ferreira M. A. R., Sun D., Jones D. E., Flack S., Spicer A., Mulcahy V. L., Byun J., Han Y., Sandford R. N., Lazaridis K. N., Amos C. I., Hirschfield G. M., Seldin M. F., Invernizzi P., Siminovitch K. A., Ma X., Nakamura M., Mells G. F., Mason A., Vincent C., Xie G., Zhang J., Affronti A., Almasio P. L., Alvaro D., Andreone P., Andriulli A., Azzaroli F., Battezzati P. M., Benedetti A., Bragazzi M. C., Brunetto M., Bruno S., Calvaruso V., Cardinale V., Casella G., Cazzagon N., Ciaccio A., Coco B., Colli A., Colloredo G., Colombo M., Colombo S., Cristoferi L., Cursaro C., Croce L. S., Crosignani A., D'Amato D., Donato F., Elia G., Fabris L., Fagiuoli S., Ferrari C., Floreani A., Galli A., Giannini E., Grattagliano I., Lampertico P., Lleo A., Malinverno F., Mancuso C., Marra F., Marzioni M., Massironi S., Mattalia A., Miele L., Milani C., Morini L., Morisco F., Muratori L., Muratori P., Niro G. A., O'Donnell S., Picciotto A., Portincasa P., Rigamonti C., Ronca V., Rosina F., Spinzi G., Strazzabosco M., Tarocchi M., Tiribelli C., Toniutto P., Valenti L., Vinci M., Zuin M., Nakamura H., Abiru S., Nagaoka S., Komori A., Yatsuhashi H., Ishibashi H., Ito M., Migita K., Ohira H., Katsushima S., Naganuma A., Sugi K., Komatsu T., Mannami T., Matsushita K., Yoshizawa K., Makita F., Nikami T., Nishimura H., Kouno H., Ota H., Komura T., Nakamura Y., Shimada M., Hirashima N., Komeda T., Ario K., Nakamuta M., Yamashita T., Furuta K., Kikuchi M., Naeshiro N., Takahashi H., Mano Y., Tsunematsu S., Yabuuchi I., Shimada Y., Yamauchi K., Sugimoto R., Sakai H., Mita E., Koda M., Tsuruta S., Kamitsukasa H., Sato T., Masaki N., Kobata T., Fukushima N., Ohara Y., Muro T., Takesaki E., Takaki H., Yamamoto T., Kato M., Nagaoki Y., Hayashi S., Ishida J., Watanabe Y., Kobayashi M., Koga M., Saoshiro T., Yagura M., Hirata K., Tanaka A., Takikawa H., Zeniya M., Abe M., Onji M., Kaneko S., Honda M., Arai K., Arinaga-Hino T., Hashimoto E., Taniai M., Umemura T., Joshita S., Nakao K., Ichikawa T., Shibata H., Yamagiwa S., Seike M., Honda K., Sakisaka S., Takeyama Y., Harada M., Senju M., Yokosuka O., Kanda T., Ueno Y., Kikuchi K., Ebinuma H., Himoto T., Yasunami M., Murata K., Mizokami M., Kawata K., Shimoda S., Miyake Y., Takaki A., Yamamoto K., Hirano K., Ichida T., Ido A., Tsubouchi H., Chayama K., Harada K., Nakanuma Y., Maehara Y., Taketomi A., Shirabe K., Soejima Y., Mori A., Yagi S., Uemoto S., H E., Tanaka T., Yamashiki N., Tamura S., Sugawara Y., Kokudo N., Chalasani N., Luketic V., Odin J., Chopra K., Abecasis G., Cantor M., Coppola G., Economides A., Lotta L. A., Overton J. D., Reid J. G., Shuldiner A., Beechert C., Forsythe C., Fuller E. D., Gu Z., Lattari M., Lopez A., Schleicher T. D., Padilla M. S., Toledo K., Widom L., Wolf S. E., Pradhan M., Manoochehri K., Ulloa R. H., Bai X., Balasubramanian S., Barnard L., Blumenfeld A., Eom G., Habegger L., Hawes A., Khalid S., Maxwell E. K., Salerno W., Staples J. C., Jones M. B., Mitnaul L. J., Sturgess R., Healey C., Yeoman A., Gunasekera A. V. J., Kooner P., Kapur K., Sathyanarayana V., Kallis Y., Subhani J., Harvey R., McCorry R., Rooney P., Ramanaden D., Evans R., Mathialahan T., Gasem J., Shorrock C., Bhalme M., Southern P., Tibble J. A., Gorard D. A., Jones S., Mells G., Mulcahy V., Srivastava B., Foxton M. R., Collins C. E., Elphick D., Karmo M., Porras-Perez F., Mendall M., Yapp T., Patel M., Ede R., Sayer J., Jupp J., Fisher N., Carter M. J., Koss K., Shah J., Piotrowicz A., Scott G., Grimley C., Gooding I. R., Williams S., Tidbury J., Lim G., Cheent K., Levi S., Mansour D., Beckley M., Hollywood C., Wong T., Marley R., Ramage J., Gordon H. M., Ridpath J., Ngatchu T., Bob Grover V. P., Shidrawi R. G., Abouda G., Corless L., Narain M., Rees I., Brown A., Taylor-Robinson S., Wilkins J., Grellier L., Banim P., Das D., Heneghan M. A., Curtis H., Matthews H. C., Mohammed F., Aldersley M., Srirajaskanthan R., Walker G., McNair A., Sharif A., Sen S., Bird G., Prince M. I., Prasad G., Kitchen P., Barnardo A., Oza C., Sivaramakrishnan N. N., Gupta P., Shah A., Evans C. D. J., Saha S., Pollock K., Bramley P., Mukhopadhya A., Barclay S. T., McDonald N., Bathgate A. J., Palmer K., Dillon J. F., Rushbrook S. M., Przemioslo R., McDonald C., Millar A., Tai C., Mitchell S., Metcalf J., Shaukat S., Ninkovic M., Shmueli U., Davis A., Naqvi A., Lee T. J. W., Ryder S., Collier J., Klass H., Cramp M. E., Sharer N., Aspinall R., Ghosh D., Douds A. C., Booth J., Williams E., Hussaini H., Christie J., Mann S., Thorburn D., Marshall A., Patanwala I., Ala A., Maltby J., Matthew R., Corbett C., Vyas S., Singhal S., Gleeson D., Misra S., Butterworth J., George K., Harding T., Douglass A., Mitchison H., Panter S., Shearman J., Bray G., Roberts M., Butcher G., Forton D., Mahmood Z., Cowan M., Ch'ng C. L., Rahman M., Whatley G. C. A., Wesley E., Mandal A., Jain S., Pereira S. P., Wright M., Trivedi P., Gordon F. H., Unitt E., Palejwala A., Austin A., Vemala V., Grant A., Higham A. D., Brind A., Mathew R., Cox M., Ramakrishnan S., King A., Whalley S., Fraser J., Thomson S. J., Bell A., Wong V. S., Kia R., Gee I., Keld R., Ransford R., Gotto J., Millson C.
المساهمون: Cordell, H. J., Fryett, J. J., Ueno, K., Darlay, R., Aiba, Y., Hitomi, Y., Kawashima, M., Nishida, N., Khor, S. -S., Gervais, O., Kawai, Y., Nagasaki, M., Tokunaga, K., Tang, R., Shi, Y., Li, Z., Juran, B. D., Atkinson, E. J., Gerussi, A., Carbone, M., Asselta, R., Cheung, A., de Andrade, M., Baras, A., Horowitz, J., Ferreira, M. A. R., Sun, D., Jones, D. E., Flack, S., Spicer, A., Mulcahy, V. L., Byun, J., Han, Y., Sandford, R. N., Lazaridis, K. N., Amos, C. I., Hirschfield, G. M., Seldin, M. F., Invernizzi, P., Siminovitch, K. A., Ma, X., Nakamura, M., Mells, G. F., Mason, A., Vincent, C., Xie, G., Zhang, J., Affronti, A., Almasio, P. L., Alvaro, D., Andreone, P., Andriulli, A., Azzaroli, F., Battezzati, P. M., Benedetti, A., Bragazzi, M. C., Brunetto, M., Bruno, S., Calvaruso, V., Cardinale, V., Casella, G., Cazzagon, N., Ciaccio, A., Coco, B., Colli, A., Colloredo, G., Colombo, M., Colombo, S., Cristoferi, L., Cursaro, C., Croce, L. S., Crosignani, A., D'Amato, D., Donato, F., Elia, G., Fabris, L., Fagiuoli, S., Ferrari, C., Floreani, A., Galli, A., Giannini, E., Grattagliano, I., Lampertico, P., Lleo, A., Malinverno, F., Mancuso, C., Marra, F., Marzioni, M., Massironi, S., Mattalia, A., Miele, L., Milani, C., Morini, L., Morisco, F., Muratori, L., Muratori, P., Niro, G. A., O'Donnell, S., Picciotto, A., Portincasa, P.
Relation: info:eu-repo/semantics/altIdentifier/pmid/34895949; info:eu-repo/semantics/altIdentifier/wos/WOS:000752563100001; volume:76; issue:2; firstpage:489; lastpage:489; journal:JOURNAL OF HEPATOLOGY; http://hdl.handle.net/11380/1288072; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121107670
الاتاحة: http://hdl.handle.net/11380/1288072
https://doi.org/10.1016/j.jhep.2021.11.015 -
6Academic Journal
المؤلفون: Lemoine, H., Raud, L., Foulquier, F., Sayer, J. A., Lambert, B., Olinger, E., Lefèvre, S., Knebelmann, B., Harris, P. C., Trouvé, P., Desprès, A., Duneau, G., Matignon, M., Poyet, A., Jourde-Chiche, N., Guerrot, D., Lemoine, S., Seret, G., Barroso-Gil, M., Bingham, C., Gilbert, R., Le Meur, Y., Audrézet, M. P., Cornec-Le Gall, E.
مصطلحات موضوعية: Cysts/genetics, Fibrosis, Humans, Kidney/pathology, Mutation/genetics, Polycystic Kidney, Autosomal Dominant/genetics/pathology, Whole Exome Sequencing, Alg5, N-linked glycosylation, autosomal dominant tubulo-interstitial kidney disease, autosomal-dominant polycystic kidney disease, renal insufficiency
Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00266-X; Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi:10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26.; https://rde.dspace-express.com/handle/11287/622636; American journal of human genetics; PMC9388391
الاتاحة: https://doi.org/10.1016/j.ajhg.2022.06.013
https://rde.dspace-express.com/handle/11287/622636 -
7Academic Journal
المؤلفون: Harris, T., Bridges, H.R., Brown, W.D., O’Brien, N.L., Daly, A.C., Jindal, B.K., Mundy, G.S., Ong, A., Power, A.J., Sandford, R.N., Sayer, J., Simms, R.J., Wilson, P.D., Winyard, P.J.D., Tarpey, M.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/188662/1/e055780.full.pdf; Harris, T., Bridges, H.R., Brown, W.D. et al. (12 more authors) (2022) Research priorities for autosomal dominant polycystic kidney disease : a UK priority setting partnership. BMJ Open, 12 (6). e055780.
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8Academic Journal
المؤلفون: Temaj, G., Nuhii, N., Sayer, J. A.
المساهمون: Kidney Research UK, Northern Counties Kidney Research Fund
المصدر: Journal of Rare Diseases ; volume 1, issue 1 ; ISSN 2731-085X
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9Dissertation/ Thesis
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10Academic Journal
المؤلفون: Bachmann-Gagescu R., Dempsey J. C., Bulgheroni S., Chen M. L., D'Arrigo S., Glass I. A., Heller T., Heon E., Hildebrandt F., Joshi N., Knutzen D., Kroes H. Y., Mack S. H., Nuovo S., Parisi M. A., Snow J., Summers A. C., Symons J. M., Zein W. M., Boltshauser E., Sayer J. A., Gunay-Aygun M., Valente E. M., Doherty D.
المساهمون: Bachmann-Gagescu, R., Dempsey, J. C., Bulgheroni, S., Chen, M. L., D'Arrigo, S., Glass, I. A., Heller, T., Heon, E., Hildebrandt, F., Joshi, N., Knutzen, D., Kroes, H. Y., Mack, S. H., Nuovo, S., Parisi, M. A., Snow, J., Summers, A. C., Symons, J. M., Zein, W. M., Boltshauser, E., Sayer, J. A., Gunay-Aygun, M., Valente, E. M., Doherty, D.
مصطلحات موضوعية: ciliopathy, Joubert syndrome, kidney, liver, retina, treatment, Abnormalities, Multiple, Brain Stem, Cerebellum, Eye Abnormalitie, Health Planning Guideline, Human, Kidney Diseases, Cystic, Neurodevelopmental Disorder, Health Personnel
Relation: info:eu-repo/semantics/altIdentifier/pmid/31710777; info:eu-repo/semantics/altIdentifier/wos/WOS:000495537800001; volume:182; issue:1; firstpage:229; lastpage:249; numberofpages:21; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1488676; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074995818
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11Academic Journal
المؤلفون: Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF, PBCConsortia, Canadian PBC Consortium, Chinese PBC Consortium, Italian PBC Study Group, Japan-PBC-GWAS Consortium, US PBC Consortium, UK-PBC Consortium, Mason A, Vincent C, Xie G, Zhang J, Affronti A, Almasio PL, Alvaro D, Andreone P, Andriulli A, Azzaroli F, Battezzati PM, Benedetti A, Bragazzi MC, Brunetto M, Bruno S, Calvaruso V, Cardinale V, Casella G, Cazzagon N, Ciaccio A, Coco B, Colli A, Colloredo G, Colombo M, Colombo S, Cristoferi L, Cursaro C, Crocè LS, Crosignani A, D'Amato D, Donato F, Elia G, Fabris L, Fagiuoli S, Ferrari C, Floreani A, Galli A, Giannini E, Grattagliano I, Lampertico P, Lleo A, Malinverno F, Mancuso C, Marra F, Marzioni M, Massironi S, Mattalia A, Miele L, Milani C, Morini L, Morisco F, Muratori L, Muratori P, A Niro GA, O'Donnell S, Picciotto A, Portincasa P, Rigamonti C, Ronca V, Rosina F, Spinzi G, Strazzabosco M, Tarocchi M, Tiribelli C, Toniutto P, Valenti L, Vinci M, Zuin M, Nakamura H, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Ishibashi H, Ito M, Migita K, Ohira H, Katsushima S, Naganuma A, Sugi K, Komatsu T, Mannami T, Matsushita K, Yoshizawa K, Makita F, Nikami T, Nishimura H, Kouno H, Ota H, Komura T, Nakamura Y, Shimada M, Hirashima N, Komeda T, Ario K, Nakamuta M, Yamashita T, Furuta K, Kikuchi M, Naeshiro N, Takahashi H, Mano Y, Tsunematsu S, Yabuuchi I, Shimada Y, Yamauchi K, Sugimoto R, Sakai H, Mita E, Koda M, Tsuruta S, Kamitsukasa H, Sato T, Masaki N, Kobata T, Fukushima N, Ohara Y, Muro T, Takesaki E, Takaki H, Yamamoto T, Kato M, Nagaoki Y, Hayashi S, Ishida J, Watanabe Y, Kobayashi M, Koga M, Saoshiro T, Yagura M, Hirata K, Tanaka A, Takikawa H, Zeniya M, Abe M, Onji M, Kaneko S, Honda M, Arai K, Arinaga-Hino T, Hashimoto E, Taniai M, Umemura T, Joshita S, Nakao K, Ichikawa T, Shibata H, Yamagiwa S, Seike M, Honda K, Sakisaka S, Takeyama Y, Harada M, Senju M, Yokosuka O, Kanda T, Ueno Y, Kikuchi K, Ebinuma H, Himoto T, Yasunami M, Murata K, Mizokami M, Kawata K, Shimoda S, Miyake Y, Takaki A, Yamamoto K, Hirano K, Ichida T, Ido A, Tsubouchi H, Chayama K, Harada K, Nakanuma Y, Maehara Y, Taketomi A, Shirabe K, Soejima Y, Mori A, Yagi S, Uemoto S, Egawa H, Tanaka T, Yamashiki N, Tamura S, Sugawara Y, Kokudo N, N Lazaridis KN, Chalasani N, Luketic V, Odin J, Chopra K, Abecasis G, Cantor M, Coppola G, Economides A, Lotta LA, Overton JD, Reid JG, Shuldiner A, Beechert C, Forsythe C, Fuller ED, Gu Z, Lattari M, Lopez A, Schleicher TD, Sotiropoulos Padilla M, Toledo K, Widom L, E Wolf SE, Pradhan M, Manoochehri K, Ulloa RH, Bai X, Balasubramanian S, Barnard L, Blumenfeld A, Eom G, Habegger L, Hawes A, Khalid S, Maxwell EK, Salerno W, Staples JC, Jones MB, Mitnaul LJ, Sturgess R, Healey C, Yeoman A, Gunasekera AV, Kooner P, Kapur K, Sathyanarayana V, Kallis Y, Subhani J, Harvey R, McCorry R, Rooney P, Ramanaden D, Evans R, Mathialahan T, Gasem J, Shorrock C, Bhalme M, Southern P, Tibble JA, Gorard DA, Jones S, Mells G, Mulcahy V, Srivastava B, Foxton MR, Collins CE, Elphick D, Karmo M, Porras-Perez F, Mendall M, Yapp T, Patel M, Ede R, Sayer J, Jupp J, Fisher N, Carter MJ, Koss K, Shah J, Piotrowicz A, Scott G, Grimley C, Gooding IR, Williams S, Tidbury J, Lim G, Cheent K, Levi S, Mansour D, Beckley M, Hollywood C, Wong T, Marley R, Ramage J, Gordon HM, Ridpath J, Ngatchu T, Grover VPB, Shidrawi RG, Abouda G, Corless L, Narain M, Rees I, Brown A, Taylor-Robinson S, Wilkins J, Grellier L, Banim P, Das D, Heneghan MA, Curtis H, Matthews HC, Mohammed F, Aldersley M, Srirajaskanthan R, Walker G, McNair A, Sharif A, Sen S, Bird G, Prince MI, Prasad G, Kitchen P, Barnardo A, Oza C, Sivaramakrishnan NN, Gupta P, Shah A, Evans CD, Saha S, Pollock K, Bramley P, Mukhopadhya A, Barclay ST, McDonald N, Bathgate AJ, Palmer K, Dillon JF, Rushbrook SM, Przemioslo R, McDonald C, Millar A, Tai C, Mitchell S, Metcalf J, Shaukat S, Ninkovic M, Shmueli U, Davis A, Naqvi A, Lee TJ, Ryder S, Collier J, Klass H, Cramp ME, Sharer N, Aspinall R, Ghosh D, Douds AC, Booth J, Williams E, Hussaini H, Christie J, Mann S, Thorburn D, Marshall A, Patanwala I, Ala A, Maltby J, Matthew R, Corbett C, Vyas S, Singhal S, Gleeson D, Misra S, Butterworth J, George K, Harding T, Douglass A, Mitchison H, Panter S, Shearman J, Bray G, Roberts M, Butcher G, Forton D, Mahmood Z, Cowan M, Ch'ng CL, Rahman M, Whatley GCA, Wesley E, Mandal A, Jain S, Pereira SP, Wright M, Trivedi P, Gordon FH, Unitt E, Palejwala A, Austin A, Vemala V, Grant A, Higham AD, Brind A, Mathew R, Cox M, Ramakrishnan S, King A, Whalley S, Fraser J, Thomson SJ, Bell A, Wong VS, Kia R, Gee I, Keld R, Ransford R, Gotto J, Millson C.
المساهمون: Cordell, Hj, Fryett, Jj, Ueno, K, Darlay, R, Aiba, Y, Hitomi, Y, Kawashima, M, Nishida, N, Khor, S, Gervais, O, Kawai, Y, Nagasaki, M, Tokunaga, K, Tang, R, Shi, Y, Li, Z, Juran, Bd, Atkinson, Ej, Gerussi, A, Carbone, M, Asselta, R, Cheung, A, de Andrade, M, Baras, A, Horowitz, J, Ferreira, Mar, Sun, D, Jones, De, Flack, S, Spicer, A, Mulcahy, Vl, Byan, J, Han, Y, Sandford, Rn, Lazaridis, Kn, Amos, Ci, Hirschfield, Gm, Seldin, Mf, Invernizzi, P, Siminovitch, Ka, Ma, X, Nakamura, M, Mells, Gf, Pbcconsortia, Canadian PBC, Consortium, Chinese PBC, Consortium, Italian PBC Study, Group, Japan-PBC-GWAS, Consortium, US PBC, Consortium, UK-PBC, Consortium, Mason, A, Vincent, C, Xie, G, Zhang, J, Affronti, A, Almasio, Pl, Alvaro, D, Andreone, P, Andriulli, A, Azzaroli, F, Battezzati, Pm, Benedetti, A, Bragazzi, Mc, Brunetto, M, Bruno, S, Calvaruso, V, Cardinale, V, Casella, G, Cazzagon, N, Ciaccio, A, Coco, B, Colli, A, Colloredo, G, Colombo, M, Colombo, S, Cristoferi, L, Cursaro, C, Crocè, L, Crosignani, A, D'Amato, D, Donato, F, Elia, G, Fabris, L, Fagiuoli, S, Ferrari, C, Floreani, A, Galli, A, Giannini, E, Grattagliano, I, Lampertico, P, Lleo, A, Malinverno, F, Mancuso, C, Marra, F
مصطلحات موضوعية: ALSPAC, ERN RARE-LIVER, Genomic co-localization, Network-based in silico drug efficacy screening, UK-PBC
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/34033851; info:eu-repo/semantics/altIdentifier/wos/WOS:000686978100008; volume:75; issue:3; firstpage:572; lastpage:581; numberofpages:10; journal:JOURNAL OF HEPATOLOGY; https://hdl.handle.net/11579/130474; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111043646
الاتاحة: https://hdl.handle.net/11579/130474
https://doi.org/10.1016/j.jhep.2021.04.055 -
12Academic Journal
المؤلفون: Walters, G., Sayer, J., Boedhihartono, A. K., Endamana, D., Angu Angu, K.
المصدر: Landscape Ecology
مصطلحات موضوعية: Landscape approach, Central Africa, Landscape conservation, Congo Basin, Forest peoples, Landscape sustainability, Sangha Tri National, Batéké Plateaux
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/0921-2973; info:eu-repo/semantics/altIdentifier/pissn/1572-9761; info:eu-repo/grantAgreement/UNIL/////; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2A8C24DDB29B6; https://serval.unil.ch/notice/serval:BIB_2A8C24DDB29B; https://serval.unil.ch/resource/serval:BIB_2A8C24DDB29B.P001/REF.pdf
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13Academic Journal
المؤلفون: Riggs, R.A., Achdiawan, R., Nawir, A.A., Boedhihartono, Agni K., Kastanya, A., Langston, J.D., Priyadi, H., Ruíz Pérez, M., Sayer, J., Tjiu, A.
المصدر: Landscape Ecology
مصطلحات موضوعية: landscape conservation, governance, ecosytem services
Relation: Riggs, R.A., Achdiawan, R., Nawir, A.A., Boedhihartono, A.K., Kastanya, A., Langston, J.D., Priyadi, H., Ruiz-Pérez, M., Sayer, J. and Tjiu, A. 2021. Governing the landscape: potential and challenges of integrated approaches to landscape sustainability in Indonesia. Landscape Ecology. https://doi.org/10.1007/s10980-021-01255-1; https://hdl.handle.net/10568/114029; https://www.cifor.org/library/8052; https://doi.org/10.1007/s10980-021-01255-1
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14Academic Journal
المؤلفون: Boedhihartono, Agni K., Bongers, F., Boot, R.G.A., Dijk, J. van, Jeans, H., Kuijk, M. van, Koster, H., Reed, J., Sayer, J., Sunderland, T.C.H., Turnhout, Esther, Vianen, J. van, Zuidema, P.A.
مصطلحات موضوعية: conservation, landscape, tropical forests, forest policy
Relation: Boedhihartono, A.K., Bongers, F., Boot, R.G.A., van Dijk, J., Jeans, H., van Kuijk, M., Koster, H., Reed, J., Sayer, J., Sunderland, T.C.H., Turnhout, E., Van Vianen, J., Zuidema, P.A. 2018. Conservation Science and Practice Must Engage With the Realities of Complex Tropical Landscapes. Tropical Conservation Science, 11: 1-7. https://doi.org/10.1177/1940082918779571; https://hdl.handle.net/10568/111893; https://www.cifor.org/library/6911; https://doi.org/10.1177/1940082918779571
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15Academic Journal
المؤلفون: Cairns, G., Burté, F., Price, R., O’Connor, E., Toms, M., Mishra, R., Moosajee, M., Pyle, A., Sayer, J. A., Yu-Wai-Man, P.
المساهمون: Fight for Sight UK, Wellcome Trust, Medical Research Council, National Institute for Health Research, Moorfields Eye Charity
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
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16Academic Journal
المؤلفون: BULL, G.Q., BOEDHIHARTONO, A.K., BUENO, G., CASHORE, B., ELLIOTT, C., LANGSTON, J.D., RIGGS, R.A., SAYER, J.
المصدر: The International Forestry Review, 2018 Jan 01. 20(2), 160-166.
URL الوصول: https://www.jstor.org/stable/26501072
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17Report
المؤلفون: Zagorec, N., Calamel, A., Ars, E., Ong, A., Halbritter, J., Audrezet, M.-P., Pillay, V.-G., Meur, Y.L., Sayer, J., Genkyst Study Group, Gall, E.C.-L.
Relation: Zagorec, N., Calamel, A., Ars, E. et al. (8 more authors) (2024) #2613 Clinical spectrum and prognosis of the atypical polycystic kidney disease caused by monoallelic loss-of-function IFT140 variants. In: Nephrology Dialysis Transplantation. 61st ERA Congress, 23-26 May 2024, Stockholm, Sweden. Oxford University Press (OUP) .
الاتاحة: https://eprints.whiterose.ac.uk/214360/
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18Academic Journal
المؤلفون: Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, D G, Gale, D P, Goffin, E, Hodanova, K, Huynh-Do, Uyen, Kistler, Andreas, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, J A, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Devuyst, Olivier
المصدر: Olinger, E; Hofmann, P; Kidd, K; Dufour, I; Belge, H; Schaeffer, C; Kipp, A; Bonny, O; Deltas, C; Demoulin, N; Fehr, T; Fuster, D G; Gale, D P; Goffin, E; Hodanova, K; Huynh-Do, Uyen; Kistler, Andreas; Morelle, J; Papagregoriou, G; Pirson, Y; Sandford, R; Sayer, J A; Torra, R; Venzin, C; Venzin, R; Vogt, B; Živná, M; Greka, A; Dahan, K; Rampoldi, L; Devuyst, Olivier; et al (2020). Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney International, 98(3):717-731.
مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Nephrology
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/187881/1/1-s2.0-S0085253820305391-main.pdf; info:pmid/32450155; urn:issn:0085-2538
الاتاحة: https://www.zora.uzh.ch/id/eprint/187881/
https://doi.org/10.1016/j.kint.2020.04.038 -
19Academic Journal
المؤلفون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B. B., Wenzel A., Tory K., Haeffner K., Wolf M. T. F., Bleyer M. E., Sayer J. A., Ong A. C. M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R. M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L. R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A. J.
المساهمون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B.B., Wenzel A., Tory K., Haeffner K., Wolf M.T.F., Bleyer M.E., Sayer J.A., Ong A.C.M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R.M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L.R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A.J.
مصطلحات موضوعية: autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/32750457; info:eu-repo/semantics/altIdentifier/wos/WOS:000596506000030; volume:98; issue:6; firstpage:1589; lastpage:1604; numberofpages:16; journal:KIDNEY INTERNATIONAL; https://hdl.handle.net/11585/963228; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383; https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract
الاتاحة: https://hdl.handle.net/11585/963228
https://doi.org/10.1016/j.kint.2020.06.041
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383
https://www.kidney-international.org/article/S0085-2538(20)30838-3/abstract -
20Academic Journal
المؤلفون: Runolfsdottir, H, Lin, T-L, Goldfarb, D, Sayer, J, Michael, M, Ketteridge, D, Rich, P, Edvardsson, V, Palsson, R
المصدر: Urolithiasis , 48 pp. 337-344. (2020)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10095106/3/Rich_Revised_Manuscript_Stone_Analysis_DHA_Stones_Urolithiasis_08032020.pdf; https://discovery.ucl.ac.uk/id/eprint/10095106/