المؤلفون: Wiessner, M, Maroofian, R, Ni, MY, Pedroni, A, Muller, JS, Stucka, R, Beetz, C, Efthymiou, S, Santorelli, FM, Alfares, AA, Zhu, CL, Meszarosova, AU, Alehabib, E, Bakhtiari, S, Janecke, AR, Otero, MG, Chen, JYH, Peterson, JT, Strom, TM, De Jonghe, P, Deconinck, T, De Ridder, W, De Winter, J, Pasquariello, R, Ricca, I, Alfadhel, M, van de Warrenburg, BP, Portier, R, Bergmann, C, Firouzabadi, SG, Jin, SC, Bilguvar, K, Hamed, S, Abdelhameed, M, Haridy, NA, Maqbool, S, Rahman, F, Anwar, N, Carmichael, J, Pagnamenta, A, Wood, NW, Mau-Them, FT, Haack, T, Di Rocco, M, Ceccherini, I, Iacomino, M, Zara, F, Salpietro, V, Scala, M, Rusmini, M, Xu, YR, Wang, YH, Suzuki, Y, Koh, K, Nan, HT, Ishiura, H, Tsuji, S, Lambert, L, Schmitt, E, Lacaze, E, Kupper, H, Dredge, D, Skraban, C, Goldstein, A, Willis, MJH, Grand, K, Graham, JM, Lewis, RA, Millan, F, Duman, O, Dundar, N, Uyanik, G, Schols, L, Nurnberg, P, Nurnberg, G, Bordes, AC, Seeman, P, Kuchar, M, Darvish, H, Rebelo, A, Boucanova, F, Medard, JJ, Chrast, R, Auer-Grumbach, M, Alkuraya, FS, Shamseldin, H, Al Tala, S, Varaghchi, JR, Najafi, M, Deschner, S, Glaser, D, Huttel, W, Kruer, MC, Kamsteeg, EJ, Takiyama, Y, Zuchner, S, Baets, J, Synofzik, M, Schule, R, Horvath, R, Houlden, H, Bartesaghi, L, Lee, HJ, Ampatzis, K, Pierson, TM, Senderek, J

المصدر: Brain : a journal of neurology. 144(5):1422-1434

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148018494

المؤلفون: Bramswig, NC, Ludecke, HJ, Pettersson, M, Albrecht, B, Bernier, RA, Cremer, K, Eichler, EE, Falkenstein, D, Gerdts, J, Jansen, S, Kuechler, A, Kvarnung, M, Lindstrand, A, Nilsson, D, Nordgren, A, Pfundt, R, Spruijt, L, Surowy, HM, de Vries, BBA, Wieland, T, Engels, H, Strom, TM, Kleefstra, T, Wieczorek, D

المصدر: Human genetics. 136(2):179-192

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135170241

المؤلفون: Haack, TB, Ignatius, E, Calvo-Garrido, J, Iuso, A, Isohanni, P, Maffezzini, C, Lonnqvist, T, Suomalainen, A, Gorza, M, Kremer, LS, Graf, E, Hartig, M, Berutti, R, Paucar, M, Svenningsson, P, Stranneheim, H, Brandberg, G, Wedell, A, Kurian, MA, Hayflick, SA, Venco, P, Tiranti, V, Strom, TM, Dichgans, M, Horvath, R, Holinski-Feder, E, Freyer, C, Meitinger, T, Prokisch, H, Senderek, J, Wredenberg, A, Carroll, CJ, Klopstock, T

المصدر: American journal of human genetics. 99(3):735-743

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134264355

المؤلفون: van der Zee, J, Van Langenhove, T, Kovacs, GG, Dillen, L, Deschamps, W, Engelborghs, S, Matej, R, Vandenbulcke, M, Sieben, A, Dermaut, B, Smets, K, Van Damme, P, Merlin, C, Laureys, A, Van Den Broeck, M, Mattheijssens, M, Peeters, K, Benussi, L, Binetti, G, Ghidoni, R, Borroni, B, Padovani, A, Archetti, S, Pastor, P, Razquin, C, Ortega-Cubero, S, Hernandez, I, Boada, M, Ruiz, A, de Mendonca, A, Miltenberger-Miltenyi, G, do Couto, FS, Sorbi, S, Nacmias, B, Bagnoli, S, Graff, C, Chiang, HH, Thonberg, H, Perneczky, R, Diehl-Schmid, J, Alexopoulos, P, Frisoni, GB, Bonvicini, C, Synofzik, M, Maetzler, W, vom Hagen, JM, Schols, L, Haack, TB, Strom, TM, Prokisch, H, Dols-Icardo, O, Clarimon, J, Lleo, A, Santana, I, Almeida, MR, Santiago, B, Heneka, MT, Jessen, F, Ramirez, A, Sanchez-Valle, R, Llado, A, Gelpi, E, Sarafov, S, Tournev, I, Jordanova, A, Parobkova, E, Fabrizi, GM, Testi, S, Salmon, E, Strobel, T, Santens, P, Robberecht, W, De Jonghe, P, Martin, JJ, Cras, P, Vandenberghe, R, De Deyn, PP, Cruts, M, Sleegers, K, Van Broeckhoven, C

المصدر: Acta neuropathologica. 128(3):397-410

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129559285

المؤلفون: Sharma, M, Ioannidis, JPA, Aasly, JO, Annesi, G, Brice, A, Bertram, L, Bozi, M, Barcikowska, M, Crosiers, D, Clarke, CE, Facheris, MF, Farrer, M, Garraux, G, Gispert, S, Auburger, G, Vilarino-Guell, C, Hadjigeorgiou, GM, Hicks, AA, Hattori, N, Jeon, BS, Jamrozik, Z, Krygowska-Wajs, A, Lesage, S, Lill, CM, Lin, JJ, Lynch, T, Lichtner, P, Lang, AE, Libioulle, C, Murata, M, Mok, V, Jasinska-Myga, B, Mellick, GD, Morrison, KE, Meitnger, T, Zimprich, A, Opala, G, Pramstaller, PP, Pichler, I, Park, SS, Quattrone, A, Rogaeva, E, Ross, OA, Stefanis, L, Stockton, JD, Satake, W, Silburn, PA, Strom, TM, Theuns, J, Tan, EK, Toda, T, Tomiyama, H, Uitti, RJ, Van Broeckhoven, C, Wirdefeldt, K, Wszolek, Z, Xiromerisiou, G, Yomono, HS, Yueh, KC, Zhao, Y, Gasser, T, Maraganore, D, Kruger, R

المصدر: Journal of medical genetics. 49(11):721-726

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125565255

المؤلفون: Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schoneborn, S, Norman, A, Neto, OLA, Dusl, M, Yuan, XD, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzman-Vega, FJ, Pena, LDM, Smith, EC, Steinlin, M, Babiker, MOE, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, PF, Yang, YP, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Schoser, B, Rosler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, EJ, Bonnemann, CG, Gleeson, JG, Martini, R, Janke, C, Senderek, J

المصدر: The EMBO journal. 37(23)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139741553

المؤلفون: Saffari, A, Lau, T, Tajsharghi, H, Karimiani, EG, Kariminejad, A, Efthymiou, S, Zifarelli, G, Sultan, T, Toosi, MB, Sedighzadeh, S, Siu, VM, Ortigoza-Escobar, JD, AlShamsi, AM, Ibrahim, S, Al-Sannaa, NA, Al-Hertani, W, Sandra, W, Tarnopolsky, M, Alavi, S, Li, C, Day-Salvatore, D-L, Martínez-González, MJ, Levandoski, KM, Bedoukian, E, Madan-Khetarpal, S, Idleburg, MJ, Menezes, MJ, Siddharth, A, Platzer, K, Oppermann, H, Smitka, M, Collins, F, Lek, M, Shahrooei, M, Ghavideldarestani, M, Herman, I, Rendu, J, Faure, J, Baker, J, Bhambhani, V, Calderwood, L, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Hashemi, N, Doosti, M, Safi, M, Ahangari, N, Torbati, PN, Abedini, S, Salpietro, V, Gulec, EY, Eshaghian, S, Ghazavi, M, Pascher, MT, Vogel, M, Abicht, A, Moutton, S, Bruel, A-L, Rieubland, C, Gallati, S, Strom, TM, Lochmüller, H, Mohammadi, MH, Alvi, JR, Zackai, EH, Keena, BA, Skraban, CM, Berger, SI, Andrew, EH, Rahimian, E, Morrow, MM, Wentzensen, IM, Millan, F, Henderson, LB, Dafsari, HS, Jungbluth, H, Gomez-Ospina, N, McRae, A, Peter, M, Veltra, D, Marinakis, NM, Sofocleous, C, Ashrafzadeh, F, Pehlivan, D, Lemke, JR, Melki, J, Benezit, A, Bauer, P, Weis, D, Lupski, JR, Senderek, J, Christodoulou, J, Chung, WK, Goodchild, R, Offiah, AC, Moreno-De-Luca, A, Suri, M, Ebrahimi-Fakhari, D, Houlden, H, Maroofian, R

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf; Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; et al. Saffari, A; Lau, T; Tajsharghi, H; Karimiani, EG; Kariminejad, A; Efthymiou, S; Zifarelli, G; Sultan, T; Toosi, MB; Sedighzadeh, S; Siu, VM; Ortigoza-Escobar, JD; AlShamsi, AM; Ibrahim, S; Al-Sannaa, NA; Al-Hertani, W; Sandra, W; Tarnopolsky, M; Alavi, S; Li, C; Day-Salvatore, D-L; Martínez-González, MJ; Levandoski, KM; Bedoukian, E; Madan-Khetarpal, S; Idleburg, MJ; Menezes, MJ; Siddharth, A; Platzer, K; Oppermann, H; Smitka, M; Collins, F; Lek, M; Shahrooei, M; Ghavideldarestani, M; Herman, I; Rendu, J; Faure, J; Baker, J; Bhambhani, V; Calderwood, L; Akhondian, J; Imannezhad, S; Mirzadeh, HS; Hashemi, N; Doosti, M; Safi, M; Ahangari, N; Torbati, PN; Abedini, S; Salpietro, V; Gulec, EY; Eshaghian, S; Ghazavi, M; Pascher, MT; Vogel, M; Abicht, A; Moutton, S; Bruel, A-L; Rieubland, C; Gallati, S; Strom, TM; Lochmüller, H; Mohammadi, MH; Alvi, JR; Zackai, EH; Keena, BA; Skraban, CM; Berger, SI; Andrew, EH; Rahimian, E; Morrow, MM; Wentzensen, IM; Millan, F; Henderson, LB; Dafsari, HS; Jungbluth, H; Gomez-Ospina, N; McRae, A; Peter, M; Veltra, D; Marinakis, NM; Sofocleous, C; Ashrafzadeh, F; Pehlivan, D; Lemke, JR; Melki, J; Benezit, A; Bauer, P; Weis, D; Lupski, JR; Senderek, J; Christodoulou, J; Chung, WK; Goodchild, R; Offiah, AC; Moreno-De-Luca, A; Suri, M; Ebrahimi-Fakhari, D; Houlden, H; Maroofian, R (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 1460-2156 https://doi.org/10.1093/brain/awad039 SGUL Authors: Karimiani, Ehsan Ghayoor

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115591/
https://openaccess.sgul.ac.uk/id/eprint/115591/1/awad039.pdf
https://doi.org/10.1093/brain/awad039

المؤلفون: Yepez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Haberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Muller MF, Munoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rotig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H

المصدر: Genome Medicine, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/281451; https://eprints.ncl.ac.uk/fulltext.aspx?url=281451/E0F4E944-FA3B-40CE-AB99-721F4558D1AE.pdf&pub_id=281451

الاتاحة: https://eprints.ncl.ac.uk/281451

المؤلفون: Dumont, M, Weber-Lassalle, N, Joly-Beauparlant, C, Ernst, C, Droit, A, Feng, B-J, Dubois, S, Collin-Deschesnes, A-C, Soucy, P, Vallée, M, Fournier, F, Lemaçon, A, Adank, MA, Allen, J, Altmüller, J, Arnold, N, Ausems, MGEM, Berutti, R, Bolla, MK, Bull, S, Carvalho, S, Cornelissen, S, Dufault, MR, Dunning, AM, Engel, C, Gehrig, A, Geurts-Giele, WRR, Gieger, C, Green, J, Hackmann, K, Helmy, M, Hentschel, J, Hogervorst, FBL, Hollestelle, A, Hooning, MJ, Horváth, J, Ikram, MA, Kaulfuß, S, Keeman, R, Kuang, D, Luccarini, C, Maier, W, Martens, JWM, Niederacher, D, Nürnberg, P, Ott, C-E, Peters, A, Pharoah, PDP, Ramirez, A, Ramser, J, Riedel-Heller, S, Schmidt, G, Shah, M, Scherer, M, Stäbler, A, Strom, TM, Sutter, C, Thiele, H, van Asperen, CJ, van der Kolk, L, van der Luijt, RB, Volk, AE, Wagner, M, Waisfisz, Q, Wang, Q, Wang-Gohrke, S, Weber, BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee, P, Tavtigian, S, Bader, GD, Meindl, A, Goldgar, DE, Andrulis, IL, Schmutzler, RK, Easton, DF, Schmidt, MK, Hahnen, E, Simard, J

Relation: pii: cancers14143363; Dumont, M., Weber-Lassalle, N., Joly-Beauparlant, C., Ernst, C., Droit, A., Feng, B. -J., Dubois, S., Collin-Deschesnes, A. -C., Soucy, P., Vallée, M., Fournier, F., Lemaçon, A., Adank, M. A., Allen, J., Altmüller, J., Arnold, N., Ausems, M. G. E. M., Berutti, R., Bolla, M. K. ,. Simard, J. (2022). Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers (Basel), 14 (14), pp.3363-. https://doi.org/10.3390/cancers14143363.; http://hdl.handle.net/11343/317160

الاتاحة: http://hdl.handle.net/11343/317160

المؤلفون: Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Consortium, Genomics England Research, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H

Relation: https://ora.ox.ac.uk/objects/uuid:e7de5714-e03d-4cb2-8e67-2a95601e9adf; https://doi.org/10.1016/j.gim.2022.07.006

الاتاحة: https://doi.org/10.1016/j.gim.2022.07.006
https://ora.ox.ac.uk/objects/uuid:e7de5714-e03d-4cb2-8e67-2a95601e9adf

المؤلفون: Kour, S, Rajan, DS, Fortuna, TR, Anderson, EN, Ward, C, Lee, Y, Lee, S, Shin, YB, Chae, J-H, Choi, M, Siquier, K, Cantagrel, V, Amiel, J, Stolerman, ES, Barnett, SS, Cousin, MA, Castro, D, McDonald, K, Kirmse, B, Nemeth, AH, Rajasundaram, D, Innes, AM, Lynch, D, Frosk, P, Collins, A, Gibbons, M, Yang, M, Desguerre, I, Boddaert, N, Gitiaux, C, Rydning, SL, Selmer, KK, Urreizti, R, Garcia-Oguiza, A, Osorio, AN, Verdura, E, Pujol, A, McCurry, HR, Landers, JE, Agnihotri, S, Andriescu, EC, Moody, SB, Phornphutkul, C, Sacoto, MJG, Begtrup, A, Houlden, H, Kirschner, J, Schorling, D, Rudnik-Schöneborn, S, Strom, TM, Leiz, S, Juliette, K, Richardson, R, Yang, Y, Zhang, Y, Wang, M, Wang, J, Wang, X, Platzer, K, Donkervoort, S, Bönnemann, CG, Wagner, M, Issa, MY, Elbendary, HM, Stanley, V, Maroofian, R, Gleeson, JG, Zaki, MS, Senderek, J, Pandey, UB

المصدر: Nature Communications , 12 , Article 2558. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10127709/1/s41467-021-22627-w.pdf; https://discovery.ucl.ac.uk/id/eprint/10127709/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10127709/1/s41467-021-22627-w.pdf
https://discovery.ucl.ac.uk/id/eprint/10127709/

المؤلفون: Chen, Y-C, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, LT-Y, Young, GT

المصدر: NATURE GENETICS. 47(7):803-808

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917

المؤلفون: Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H

المصدر: American Journal of Medical Genetics Part A, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/264167; https://eprints.ncl.ac.uk/fulltext.aspx?url=264167/75BA2A53-26EC-4950-88D9-D5BAC196C52E.pdf&pub_id=264167

الاتاحة: https://eprints.ncl.ac.uk/264167

المؤلفون: Wagner, M, Levy, J, Jung-Klawitter, S, Bakhtiari, S, Monteiro, F, Maroofian, R, Bierhals, T, Hempel, M, Elmaleh-Berges, M, Kitajima, JP, Kim, CA, Salomao, JG, Amor, DJ, Cooper, MS, Perrin, L, Pipiras, E, Neu, A, Doosti, M, Karimiani, EG, Toosi, MB, Houlden, H, Jin, SC, Si, YC, Rodan, LH, Venselaar, H, Kruer, MC, Kok, F, Hoffmann, GF, Strom, TM, Wortmann, SB, Tabet, A-C, Opladen, T

المصدر: Genetics in Medicine , 22 pp. 1061-1068. (2020)

مصطلحات موضوعية: TNR, spastic tetraparesis, cerebral palsy, exome sequencing, developmental disorder

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10094729/1/TNR,%20Wagner,%20M%20et%20al.pdf; https://discovery.ucl.ac.uk/id/eprint/10094729/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10094729/1/TNR,%20Wagner,%20M%20et%20al.pdf
https://discovery.ucl.ac.uk/id/eprint/10094729/

المؤلفون: Fuchsberger, C, Flannick, J, Teslovich, TM, Mahajan, A, Agarwala, V, Gaulton, KJ, Ma, C, Fontanillas, P, Moutsianas, L, McCarthy, DJ, Rivas, MA, Perry, JRB, Sim, X, Blackwell, TW, Robertson, NR, Rayner, NW, Cingolani, P, Locke, AE, Tajes, JF, Highland, HM, Dupuis, J, Chines, PS, Lindgren, CM, Hartl, C, Jackson, AU, Chen, H, Huyghe, JR, van de Bunt, M, Pearson, RD, Kumar, A, Muller-Nurasyid, M, Grarup, N, Stringham, HM, Gamazon, ER, Lee, J, Chen, YH, Scott, RA, Below, JE, Chen, P, Huang, J, Go, MJ, Stitzel, ML, Pasko, D, Parker, SCJ, Varga, TV, Green, T, Beer, NL, Day-Williams, AG, Ferreira, T, Fingerlin, T, Horikoshi, M, Hu, C, Huh, I, Ikram, MK, Kim, BJ, Kim, Y, Kim, YJ, Kwon, MS, Lee, S, Lin, KH, Maxwell, TJ, Nagai, Y, Wang, X, Welch, RP, Yoon, J, Zhang, W, Barzilai, N, Voight, BF, Han, BG, Jenkinson, CP, Kuulasmaa, T, Kuusisto, J, Manning, A, Ng, MCY, Palmer, ND, Balkau, B, Stancakova, A, Abboud, HE, Boeing, H, Giedraitis, V, Prabhakaran, D, Gottesman, O, Scott, J, Carey, J, Kwan, P, Grant, G, Smith, JD, Neale, BM, Purcell, S, Butterworth, AS, Howson, JMM, Lee, HM, Lu, YC, Kwak, SH, Zhao, W, Danesh, J, Lam, VKL, Park, KS, Saleheen, D, So, WY, Tam, CHT, Afzal, U, Aguilar, D, Arya, R, Aung, T, Chan, E, Navarro, C, Cheng, CY, Palli, D, Correa, A, Curran, JE, Rybin, D, Farook, VS, Fowler, SP, Freedman, BI, Griswold, M, Hale, DE, Hicks, PJ, Khor, CC, Kumar, S, Lehne, B, Thuillier, D, Lim, WY, Liu, J, van der Schouw, YT, Loh, M, Musani, SK, Puppala, S, Scott, WR, Yengo, L, Tan, ST, Taylor, HA, Thameem, F, Wilson, G, Wong, TY, Njolstad, PR, Levy, JC, Mangino, M, Bonnycastle, LL, Schwarzmayr, T, Fadista, J, Surdulescu, GL, Herder, C, Groves, CJ, Wieland, T, Bork-Jensen, J, Brandslund, I, Christensen, C, Koistinen, HA, Doney, ASF, Kinnunen, L, Esko, T, Farmer, AJ, Hakaste, L, Hodgkiss, D, Kravic, J, Lyssenko, V, Hollensted, M, Jorgensen, ME, Jorgensen, T, Ladenvall, C, Justesen, JM, Karajamaki, A, Kriebel, J, Rathmann, W, Lannfelt, L, Lauritzen, T, Narisu, N, Linneberg, A, Melander, O, Milani, L, Neville, M, Orho-Melander, M, Qi, L, Qi, QB, Roden, M, Rolandsson, O, Swift, A, Rosengren, AH, Stirrups, K, Wood, AR, Mihailov, E, Blancher, C, Carneiro, MO, Maguire, J, Poplin, R, Shakir, K, Fennell, T, DePristo, M, de Angelis, MH, Deloukas, P, Gjesing, AP, Jun, G, Nilsson, P, Murphy, J, Onofrio, R, Thorand, B, Hansen, T, Meisinger, C, Hu, FB, Isomaa, B, Karpe, F, Liang, LM, Peters, A, Huth, C, O'Rahilly, SP, Palmer, CNA, Pedersen, O, Rauramaa, R, Tuomilehto, J, Salomaa, V, Watanabe, RM, Syvanen, AC, Bergman, RN, Bharadwaj, D, Bottinger, EP, Cho, YS, Chandak, GR, Chan, JCN, Chia, KS, Daly, MJ, Ebrahim, SB, Langenberg, C, Elliott, P, Jablonski, KA, Lehman, DM, Jia, WP, Ma, RCW, Pollin, TI, Sandhu, M, Tandon, N, Froguel, P, Barroso, I, Teo, YY, Zeggini, E, Loos, RJF, Small, KS, Ried, JS, DeFronzo, RA, Grallert, H, Glaser, B, Metspalu, A, Wareham, NJ, Walker, M, Banks, E, Gieger, C, Ingelsson, E, Im, HK, Illig, T, Franks, PW, Buck, G, Trakalo, J, Buck, D, Prokopenko, I, Magi, R, Lind, L, Farjoun, Y, Owen, KR, Gloyn, AL, Strauch, K, Tuomi, T, Kooner, JS, Lee, JY, Park, T, Donnelly, P, Morris, AD, Hattersley, AT, Bowden, DW, Collins, FS, Atzmon, G, Chambers, JC, Spector, TD, Laakso, M, Strom, TM, Bell, GI, Blangero, J, Duggirala, R, Tai, ES, McVean, G, Hanis, CL, Wilson, JG, Seielstad, M, Frayling, TM, Meigs, JB, Cox, NJ, Sladek, R, Lander, ES, Gabriel, S, Burtt, NP, Mohlke, KL, Meitinger, T, Groop, L, Abecasis, G, Florez, JC, Scott, LJ, Morris, AP, Kang, HM, Boehnke, M, Altshuler, D, McCarthy, MI

المصدر: Nature. 536(7614):41

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134294641

المؤلفون: Flannick J, Mercader JM, Fuchsberger C, Udler MS, Mahajan A, Wessel J, Teslovich TM, Caulkins L, Koesterer R, Barajas-Olmos F, Blackwell TW, Boerwinkle E, Brody JA, Centeno-Cruz F, Chen L, Chen S, Contreras-Cubas C, Córdova E, Correa A, Cortes M, DeFronzo RA, Dolan L, Drews KL, Elliott A, Floyd JS, Gabriel S, Garay-Sevilla ME, García-Ortiz H, Gross M, Han S, Heard-Costa NL, Jackson AU, Jørgensen ME, Kang HM, Kelsey M, Kim BJ, Koistinen HA, Kuusisto J, Leader JB, Linneberg A, Liu CT, Liu J, Lyssenko V, Manning AK, Marcketta A, Malacara-Hernandez JM, Martínez-Hernández A, Matsuo K, Mayer-Davis E, Mendoza-Caamal E, Mohlke KL, Morrison AC, Ndungu A, Ng MCY, O'Dushlaine C, Payne AJ, Pihoker C, Post WS, Preuss M, Psaty BM, Vasan RS, Rayner NW, Reiner AP, Revilla-Monsalve C, Robertson NR, Santoro N, Schurmann C, So WY, Soberón X, Stringham HM, Strom TM, Tam CHT, Thameem F, Tomlinson B, Torres JM, Tracy RP, van Dam RM, Vujkovic M, Wang S, Welch RP, Witte DR, Wong TY, Atzmon G, Barzilai N, Blangero J, Bonnycastle LL, Bowden DW, Chambers JC, Chan E, Cheng CY, Cho YS, Collins FS, de Vries PS, Duggirala R, Glaser B, Gonzalez C, Gonzalez ME, Groop L, Kooner JS, Kwak SH, Laakso M, Lehman DM, Nilsson P, Spector TD, Tai ES, Tuomi T, Tuomilehto J, Wilson JG, Aguilar-Salinas CA, Bottinger E, Burke B, Carey DJ, Chan JCN, Dupuis J, Frossard P, Heckbert SR, Hwang MY, Kim YJ, Kirchner HL, Lee JY, Lee J, Loos RJF, Ma RCW, Morris AD, O'Donnell CJ, Palmer CNA, Pankow J, Park KS, Rasheed A, Saleheen D, Sim X, Small KS, Teo YY, Haiman C, Hanis CL, Henderson BE, Orozco L, Tusié-Luna T, Dewey FE, Baras A, Gieger C, Meitinger T, Strauch K, Lange L, Grarup N, Hansen T, Pedersen O, Zeitler P, Dabelea D, Abecasis G, Bell GI, Cox NJ, Seielstad M, Sladek R, Meigs JB, Rich SS, Rotter JI, Altshuler D, Burtt NP, Scott LJ, Morris AP, Florez JC, McCarthy MI, Boehnke M

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1038/s41586-019-1231-2; https://bia.unibz.it/handle/10863/12039

الاتاحة: https://doi.org/10.1038/s41586-019-1231-2
https://bia.unibz.it/handle/10863/12039

المؤلفون: Freischmidt, A, Wieland, T, Richter, B, Ruf, W, Schaeffer, V, Muller, K, Marroquin, N, Nordin, F, Hubers, A, Weydt, P, Pinto, S, Press, R, Millecamps, S, Molko, N, Bernard, E, Desnuelle, C, Soriani, MH, Dorst, J, Graf, E, Nordstrom, U, Feiler, MS, Putz, S, Boeckers, TM, Meyer, T, Winkler, AS, Winkelman, J, de Carvalho, M, Thal, DR, Otto, M, Brannstrom, T, Volk, AE, Kursula, P, Danzer, KM, Lichtner, P, Dikic, I, Meitinger, T, Ludolph, AC, Strom, TM, Andersen, PM, Weishaupt, JH

المصدر: Nature neuroscience. 18(5):631

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131182471

المؤلفون: Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rotig A, Ardissone A, Lombes A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, De Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, De Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne M-C, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Haberle J, Vockley J, Prokisch H, Wortmann S

المصدر: Orphanet Journal of Rare Diseases, 19 July 2018

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/250409; https://eprints.ncl.ac.uk/fulltext.aspx?url=250409/DEE33F72-4EED-4D0E-9617-AD1001010D66.pdf&pub_id=250409

الاتاحة: https://eprints.ncl.ac.uk/250409

المؤلفون: Repp, BM, Mastantuono, E, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Ding, WH, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJM, Wittig, I, Scurr, I, Coo, IFM, Moroni, I, Smet, J, Mayr, JA, Dai, LF, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, RJ, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, TM, Herberg, U, Ahting, U, Sperl, W, Nassogne, MC, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, RW, Haberle, J, Vockley, J, Prokisch, H, Wortmann, S

المصدر: Repp , BM , Mastantuono , E , Alston , CL , Schiff , M , Haack , TB , Rotig , A , Ardissone , A , Lombes , A , Catarino , CB , Diodato , D , Schottmann , G , Poulton , J , Burlina , A , Jonckheere , A , Munnich , A , Rolinski , B , Ghezzi , D , Rokicki , D , Wellesley , D , Martinelli , D , Ding , WH , Lamantea , E , Ostergaard , E , Pronicka , E , Pierre , G ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/94f2998b-e84c-425a-87cb-448bfb043c27
https://doi.org/10.1186/s13023-018-0784-8
https://pure.eur.nl/ws/files/47936400/REPUB_109529-OA.pdf
http://hdl.handle.net/1765/109529

المؤلفون: Reijnders, M R F, Miller, KA, Alvi, M, Goos, Jacqueline, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Baralle, D, Blair, EM, Engels, H, Ludecke, HJ, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, Marieke, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, Peter, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, Sigrid, Douzgou, S, Wall, SA, Kury, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, Irene, Nellaker, C, Brunner, HG, Wilkie, AOM

المصدر: Reijnders , M R F , Miller , KA , Alvi , M , Goos , J , Lees , MM , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , BBA , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , CAL , Wieczorek , D , Baralle , D , Blair , EM , Engels , H , Ludecke , HJ , Eason , J , Santen , GWE , Clayton-Smith , J ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES015001A, name=EMC NIHES-01-50-01-A

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/aab3cd86-64af-4318-91ef-24d126e30d2c
https://doi.org/10.1016/j.ajhg.2018.04.014
https://pure.eur.nl/ws/files/47922857/REPUB_107127_OA.pdf
http://hdl.handle.net/1765/107127