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1دورية أكاديمية
المؤلفون: Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Orth, M, Bachoud-Levi, AC, Bentivoglio, AR, Biunno, I, Bonelli, RM, Burgunder, JM, Dunnett, SB, Ferreira, JJ, Handley, OJ, Heiberg, A, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Koivisto, SP, Paivarinta, M, Roos, RAC, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Verellen-Dumoulin, C, Uhrova, T, Wahlstrom, J, Zaremba, J, Baake, V, Barth, K, Bos, R, Come, A, Guedes, LC, Finisterra, AM, Garde, MB, Betz, S, Callaghan, J, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Ecker, D, Finisterra, M, Fullam, R, Genoves, C, Gilling, M, Hvalstedt, C, Held, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Martinez-Horta, S, Mestre, T, Minster, S, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Peppa, N, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Townhill, J, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Witkowski, G, Wright, A, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Krystkowiak, P, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Lewerenz, J, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Buck, A, Connemann, J, Geitner, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, van den Bogaard, SJA, Dumas, EM, t'Hart, EP, Kampstra, A, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Rudzinska, M, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Stepniak, I, Sulek, A, Zdzienicka, E, Ziora-Jakutowicz, K, Januario, C, Julio, F, Coelho, M, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, Maria, ADS, Munoz, E, Santacruz, P, Barbera, MA, Pardo, SA, Guia, DB, Calzado, N, Hernanz, LC, Diaz-Zorita, JPT, Catena, JL, Ferrer, PQ, Carruesco, GT, Robert, MF, Viladrich, CM, Roca, E, Idiago, JMR, Riballo, AV, Campolongo, A, de Bobadilla, RF, Bojarsky, JK, Pagonabarraga, J, Perez, JP, Ribosa, R, Villa, C, Gil, MAA, Corrales, KB, Esteban, JCG, Gonzalez, A, Merino, BT, Cubo, E, Polo, CG, Mariscal, N, Romero, SG, Arbelo, JM, de Molina, RM, Martin, I, Perianez, JM, Udaeta, B, Alonso-Frech, F, Frades, B, Villanueva, MA, Sevilla, MAZ, Frech, FA, Fenollar, MD, Garcia, RGR, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Barral, VM, Ruiz, PJG, Garcia, A, Lopez, RG, Barcenas, AH, Martinez-Descals, A, Martin, VP, Martinez, NR, Artiga, MJS, Sanchez, V, Pueyo, A, Gonzalez, S, Guisasola, LM, Ribacoba, MPPR, Salvador, C, Lozano, PS, Caldentey, JG, Ramirez, IL, Arques, PN, Lopera, MR, Pastor, BV, Gaston, I, Garcia-Amigot, F, Martinez-Jaurrieta, MD, Ramos-Arroyo, MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Coleman, C, Craven, J, Haig-Brown, D, Pallett, A, Simpson, S, Weekes, R, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, Lahiri, N, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, Bruno, S, Chu, E, Doherty, K, Golding, C, Haider, S, Hensman, D, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Craufurd, D, Hare, M, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Bailey, W, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, O'Donovan, K, Nevitt, L, Quarrell, O, Taylor, C, Tidswell, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Foroud, T, Antonijevic, I, vankammen, D, Dorsey, R, Warner, J, Giuliano, J, Vetter, L, Suchowersky, O, Beck, C, Oakes, D, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Nucifora, F, Dubinsky, R, Dubinsky, H, Klimek, ML, Jones, R, Testa, C, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Hunt, V, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Louis, E, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Lucarelli, N, Broyles, J, Delarosa, J, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Thiede, F, Zauber, SE, Wesson, M, McInnis, R, Welsh, C, Coleman, A
المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 180(3):232-245
مصطلحات موضوعية: Medicin och hälsovetenskap
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2
المؤلفون: Legius, E., Messiaen, L., Wolkenstein, P., Pancza, P., Avery, R. A., Berman, Y., Blakeley, J., Babovic-Vuksanovic, D., Cunha, K. S., Ferner, R., Fisher, M. J., Friedman, J. M., Gutmann, D. H., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. F., Peltonen, Sirkku, 1964, Rauen, K. A., Riccardi, V., Schorry, E., Stemmer-Rachamimov, A., Stevenson, D. A., Tadini, G., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Huson, S. M., Evans, D. G., Plotkin, S. R.
المصدر: Genetics in Medicine. 23:1506-1513
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, choroidal abnormalities, sequence variants, mutation analysis, gene, mosaicism, identification, reveals, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/305494Test
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3دورية أكاديمية
المؤلفون: Plotkin S. R., Messiaen L., Legius E., Pancza P., Avery R. A., Blakeley J. O., Babovic-Vuksanovic D., Ferner R., Fisher M. J., Friedman J. M., Giovannini M., Gutmann D. H., Hanemann C. O., Kalamarides M., Kehrer-Sawatzki H., Korf B. R., Mautner V. -F., MacCollin M., Papi L., Rauen K. A., Riccardi V., Schorry E., Smith M. J., Stemmer-Rachamimov A., Stevenson D. A., Ullrich N. J., Viskochil D., Wimmer K., Yohay K., Anten M., Aylsworth A., Baralle D., Barbarot S., Barker F., Ben-Shachar S., Bergner A., Bessis D., Blanco I., Cassiman C., Ciavarelli P., Clementi M., Frebourg T., Gomes A., Halliday D., Helen Hanson Arvid Heiberg C. H., Joly P., Jordan J. T., Karajannis M., Kroshinsky D., Larralde M., Lazaro C., Le L., Link M., Listernick R., Mallucci C., Merker V. L., Moertel C., Mueller A., Ngeow J., Oostenbrink R., Packer R., Parry A., Peltonen J., Pichard D., Poppe B., Rezende N., Rodrigues L. O., Rosser T., Ruggieri M., Serra E., Steinke-Lange V., Stivaros S. M., Taylor A., Toelen J., Tonsgard J., Trevisson E., Upadhyaya M., Varan A., Wilson M., Wu H., Zadeh G., Huson S. M., Wolkenstein P., Evans D. G.
المساهمون: Plotkin, S. R., Messiaen, L., Legius, E., Pancza, P., Avery, R. A., Blakeley, J. O., Babovic-Vuksanovic, D., Ferner, R., Fisher, M. J., Friedman, J. M., Giovannini, M., Gutmann, D. H., Hanemann, C. O., Kalamarides, M., Kehrer-Sawatzki, H., Korf, B. R., Mautner, V. -F., Maccollin, M., Papi, L., Rauen, K. A., Riccardi, V., Schorry, E., Smith, M. J., Stemmer-Rachamimov, A., Stevenson, D. A., Ullrich, N. J., Viskochil, D., Wimmer, K., Yohay, K., Anten, M., Aylsworth, A., Baralle, D., Barbarot, S., Barker, F., Ben-Shachar, S., Bergner, A., Bessis, D., Blanco, I., Cassiman, C., Ciavarelli, P., Clementi, M., Frebourg, T., Gomes, A., Halliday, D., Helen Hanson Arvid Heiberg, C. H., Joly, P., Jordan, J. T., Karajannis, M., Kroshinsky, D., Larralde, M., Lazaro, C., Le, L., Link, M., Listernick, R., Mallucci, C., Merker, V. L., Moertel, C., Mueller, A., Ngeow, J., Oostenbrink, R., Packer, R., Parry, A., Peltonen, J., Pichard, D., Poppe, B., Rezende, N., Rodrigues, L. O., Rosser, T., Ruggieri, M., Serra, E., Steinke-Lange, V., Stivaros, S. M., Taylor, A., Toelen, J., Tonsgard, J., Trevisson, E., Upadhyaya, M., Varan, A., Wilson, M., Wu, H., Zadeh, G., Huson, S. M., Wolkenstein, P., Evans, D. G.
مصطلحات موضوعية: NF2, Neurofibromatosi, SMARCB1, Schwannomatosi, lztr1
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35674741; info:eu-repo/semantics/altIdentifier/wos/WOS:000855692500017; volume:24; issue:9; firstpage:1967; lastpage:1977; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3473739Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132738125; https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://hdl.handle.net/11577/3473739Test
https://www.sciencedirect.com/science/article/pii/S1098360022007730?via=ihubTest -
4دورية أكاديمية
المؤلفون: Garg, S, Heuvelman, H, Huson, S, Tobin, H, Green, J, Network, Northern UK NF1 Research
العلاقة: https://ora.ox.ac.uk/objects/uuid:28974f48-8631-424f-a0b1-12b7ac141678Test; https://doi.org/10.1186/s11689-016-9159-4Test
الإتاحة: https://doi.org/10.1186/s11689-016-9159-4Test
https://ora.ox.ac.uk/objects/uuid:28974f48-8631-424f-a0b1-12b7ac141678Test -
5دورية أكاديمية
المؤلفون: Stivaros, S, Garg, S, Tziraki, M, Cai, Y, Thomas, O, Melloe, J, Morris, A, Jim, CS, Szumanska-Ryt, K, Parkes, L, Haroon, H, Montaldi, D, Webb, N, Keane, J, Castellanos, F, Silva, A, Huson, S, Williams, S, Evans, DG, Emsley, R, Green, J
وصف الملف: text
العلاقة: https://e-space.mmu.ac.uk/620067Test/; http://www.molecularautism.comTest/; https://e-space.mmu.ac.uk/620067/1/s13229-018-0190-z.pdfTest; https://e-space.mmu.ac.uk/620067/6/13229_2018_190_MOESM1_ESM%20%282%29.pdfTest; Stivaros, S , Garg, S , Tziraki, M , Cai, Y , Thomas, O , Melloe, J , Morris, A , Jim, CS , Szumanska-Ryt, K , Parkes, L , Haroon, H , Montaldi, D , Webb, N , Keane, J , Castellanos, F , Silva, A , Huson, S , Williams, S , Evans, DG , Emsley, R and Green, J (2018) Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA). Molecular Autism, 12. ISSN 2040-2392
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6دورية أكاديمية
المؤلفون: Suresh, G., George, J., Waqar, M., Ealing, J., Karabatsou, T., Soh, C., Huson, S.
المصدر: International Journal of Surgery ; volume 55, page S1 ; ISSN 1743-9191
الإتاحة: https://doi.org/10.1016/j.ijsu.2018.05.676Test
https://api.elsevier.com/content/article/PII:S1743919118314250?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1743919118314250?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Orth, M, Handley, OJ, Schwenke, C, Dunnett, S, Wild, EJ, Tabrizi, SJ, Landwehrmeyer, GB, Bachoud-Levi, AC, Bentivoglio, AR, Biunno, I, Bonelli, R, Burgunder, JM, Dunnett, SB, Ferreira, JJ, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Levey, J, Nielsen, JE, Paivarinta, M, Roos, RAC, Sebastian, AR, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Wallner, M, Barth, K, Guedes, LC, Finisterra, AM, Garde, MB, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laura, M, Descals, AM, McLean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, SP, Rialland, A, Roren, N, Sasinkova, P, Cubillo, PT, Tritsch, C, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, RM, Herranhof, B, Holl, A, Kapfhammer, HP, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Muller, N, Schoggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, EM, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, EM, Sinadinosa, D, Walleczek, AM, Ladurner, G, Staffen, W, Ribai, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempir, J, Kucharik, M, Roth, J, Senkarova, Z, Hasholt, L, Hjermind, LE, Jakobsen, O, Norremolle, A, Sorensen, SA, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Karppa, M, Aman, J, Santala, M, Allain, P, Guerid, MA, Gohier, B, Olivier, A, Prundean, A, Scherer-Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucriere, D, De Bruycker, C, Carette, AS, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault-Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, JP, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, MA, Calvas, F, Cheriet, S, Demonet, JF, Galitzky, M, Kosinski, CM, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, CJ, Gelderblom, H, Priller, J, Pruss, H, Spruth, EJ, Andrich, J, Hoffmann, R, Kraus, PH, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Lohle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Burk, K, Moller, JC, Rissling, I, Peinemann, A, Stadtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Holzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic-Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Sussmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Russo, CV, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, MSE, van Vugt, JPP, de Weert, AM, Bolwijn, JJW, Dekker, M, Leenders, KL, van Oostrom, JCH, Dumas, EM, Jurgens, CK, van den Bogaard, SJA, 't Hart, EP, Kremer, B, Verstappen, CCP, Frich, J, Wehus, R, Aaserud, O, Borgerod, N, Bjorgo, K, Fannemel, M, Gorvell, P, Retterstol, L, Overland, T, Stokke, B, Bjornevoll, I, Sando, SB, Blinkenberg, EO, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska-Jedynak, M, Jasinska-Myga, B, Opala, G, Klodowska-Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzinska, M, Wojcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempolowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sulek, A, Krysa, W, Julio, F, Januario, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timoteo, A, Costa, C, Vale, J, Cavaco, S, Damasio, J, Magalhaes, M, Gago, M, Garrett, C, Guerra, MR, Solis, P, Herrera, CD, Garcia, PM, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sanchez, J, Alonso-Frech, F, Perez, MR, Fenollar, M, Garcia, RGR, Quiroga, PP, Rivera, SV, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Ruiz, PJG, Artiga, MJS, Sanchez, V, Perea, MFN, Lorenza, F, Torres, MMA, Reinante, G, Moreau, LV, Barbera, MA, Guia, DB, Hernanz, LC, Catena, JL, Ferrer, PQ, Carruesco, GT, Bas, J, Busquets, N, Calopa, M, Buongiorno, MT, Munoz, E, Elorza, MD, Lopez, CDA, Terol, SDS, Robert, MF, Ruiz, BG, Casado, AG, Martinez, IH, Viladrich, CM, Cardenas, RPI, Roca, E, Llesoy, JR, Idiago, JMR, Vergara, MR, Garcia, SS, Riballo, AV, Gonzalez, SG, Guisasola, LM, Salvador, C, San Martin, ES, Gorospe, A, Legarda, I, Arques, PN, Rodriguez, MJT, Vives, B, Gaston, I, Ramos-Arroyo, MA, Moreno, JMG, Pena, JC, Avarvarei, LD, Bastida, AM, Recio, MF, Verge, LR, Sanchez, VS, Carrillo, F, Caceres, MT, Mir, P, Suarez, MJL, Bosca, M, Burguera, JA, Garcia, AC, Martinez, LM, del Val, JL, Loutfi, G, Olofsson, C, Stattin, EL, Westman, L, Wikstrom, B, Hoglund, A, Palhagen, SE, Paucar, M, Sandstrom, B, Soltani, R, Svenningsson, P, Reza-Soltani, TW, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Neleborn-Lingefjard, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Bjorn, Y, Ekwall, C, Goller, ML, Johansson, A, Wiklund, L, Petersen, A, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, RA, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison-Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, McGill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington-Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender-Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, AH, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O, Massaro, F, Mechi, C, Paganini, M
المصدر: Journal of neurology, neurosurgery, and psychiatry. 82(12):1409
مصطلحات موضوعية: Medicin och hälsovetenskap
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8دورية أكاديمية
المؤلفون: Huson, S. M., Staab, T., Pereira, M., Ward, H., Paredes, Roberto, Evans, D. G., Baumhoer, D., O'Sullivan, J., Cheesman, E., Schindler, D., Meyer, Stefan
المساهمون: Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
العلاقة: https://dx.doi.org/10.1007/s10689-020-00221-1Test; Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, et al. Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome. Fam Cancer. 2020.; http://hdl.handle.net/10541/623620Test; Familial Cancer
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9دورية أكاديمية
المؤلفون: Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska Jedynak M, Ciach Wysocka E, Gorzkowska A, Jasinska Myga B, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, Quarrell O
المساهمون: Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes-Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O
مصطلحات موضوعية: Huntington, V471A polymorphism, gene ATG7
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23894380; info:eu-repo/semantics/altIdentifier/wos/WOS:000322132100032; volume:8; issue:7; firstpage:1; lastpage:9; numberofpages:9; journal:PLOS ONE; http://hdl.handle.net/11585/295527Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84880667166; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068951Test
الإتاحة: https://doi.org/10.1371/journal.pone.0068951Test
http://hdl.handle.net/11585/295527Test
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068951Test -
10دورية أكاديمية
مصطلحات موضوعية: ABN abstracts
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/83/3/e1-dbTest; http://dx.doi.org/10.1136/jnnp-2011-301993.106Test
الإتاحة: https://doi.org/10.1136/jnnp-2011-301993.106Test
http://jnnp.bmj.com/cgi/content/short/83/3/e1-dbTest