المؤلفون: Gannon, T, Perveen, R, Schlecht, H, Ramsden, S, Anderson, B, Kerr, B, Day, R, Banka, S, Suri, M, Berland, S, Gabbett, M, Ma, A, Lyonnet, S, Cormier-Daire, V, Yilmaz, R, Borck, G, Wieczorek, D, Anderlid, BM, Smithson, S, Vogt, J, Moore-Barton, H, Simsek-Kiper, PO, Maystadt, I, Destree, A, Bucher, J, Angle, B, Mohammed, S, Wakeling, E, Price, S, Singer, A, Sznajer, Y, Toutain, A, Haye, D, Newbury-Ecob, R, Fradin, M, McGaughran, J, Tuysuz, B, Tein, M, Bouman, K, Dabir, T, Van den Ende, J, Luk, HM, Pilz, DT, Eason, J, Davies, S, Reardon, W, Garavelli, L, Zuffardi, O, Devriendt, K, Armstrong, R, Johnson, D, Doco-Fenzy, M, Bijlsma, E, Unger, S, Veenstra-Knol, HE, Kohlhase, J, Lo, IFM, Smith, J, Clayton-Smith, J

المصدر: European journal of human genetics : EJHG. 23(9):1165-1170

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131785262

المؤلفون: Enervald, E, Du, LK, Visnes, T, Bojrkman, A, Lindgren, E, Wincent, J, Borck, G, Colleaux, L, Cormier-Daire, V, van Gent, DC, Pie, J, Puisac, B, de Miranda, NFCC, Kracker, S, Hammarstrom, L, de Villartay, JP, Durandy, A, Schoumans, J, Strom, L, Pan-Hammarstrom, Q

المصدر: The Journal of experimental medicine. 210(12):2503-2513

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Immunologi inom det medicinska området, Medicinsk genetik

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:127803241

المؤلفون: Bjorkman, A, Du, LK, van der Burg, M, Cormier-Daire, V, Borck, G, Pie, J, Anderlid, BM, Hammarstrom, L, Strom, L, de Villartay, JP, Kipling, D, Walters, DD, Pan-Hammarstrom, Q

المصدر: The Journal of allergy and clinical immunology. 141(1):408

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137434163

المؤلفون: Anttila, V, Bulik-Sullivan, B, Finucane, HK, Walters, RK, Bras, J, Duncan, L, Escott-Price, V, Falcone, GJ, Gormley, P, Malik, R, Patsopoulos, NA, Ripke, S, Wei, Z, Yu, DM, Lee, PH, Turley, P, Grenier-Boley, B, Chouraki, V, Kamatani, Y, Berr, C, Letenneur, L, Hannequin, D, Amouyel, P, Boland, A, Deleuze, JF, Duron, E, Vardarajan, BN, Reitz, C, Goate, AM, Huentelman, MJ, Kamboh, MI, Larson, EB, Rogaeva, E, St George-Hyslop, P, Hakonarson, H, Kukull, WA, Farrer, LA, Barnes, LL, Beach, TG, Demirci, FY, Head, E, Hulette, CM, Jicha, GA, Kauwe, JSK, Kaye, JA, Leverenz, JB, Levey, AI, Lieberman, AP, Pankratz, VS, Poon, WW, Quinn, JF, Saykin, AJ, Schneider, LS, Smith, AG, Sonnen, JA, Stern, RA, Van Deerlin, VM, Van Eldik, LJ, Harold, D, Russo, G, Rubinsztein, DC, Bayer, A, Tsolaki, M, Proitsi, P, Fox, NC, Hampel, H, Owen, MJ, Mead, S, Passmore, P, Morgan, K, Nothen, MM, Rossor, M, Lupton, MK, Hoffmann, P, Kornhuber, J, Lawlor, B, McQuillin, A, Al-Chalabi, A, Bis, JC, Ruiz, A, Boada, M, Seshadri, S, Beiser, A, Rice, K, van der Lee, SJ, De Jager, PL, Geschwind, DH, Riemenschneider, M, Riedel-Heller, S, Rotter, JI, Ransmayr, G, Hyman, BT, Cruchaga, C, Alegret, M, Winsvold, B, Palta, P, Farh, KH, Cuenca-Leon, E, Furlotte, N, Kurth, T, Ligthart, L, Terwindt, GM, Freilinger, T, Ran, C, Gordon, SD, Borck, G, Adams, HHH, Lehtimaki, T, Wedenoja, J, Buring, JE, Schurks, M, Hrafnsdottir, M, Hottenga, JJ, Penninx, B, Artto, V, Kaunisto, M, Vepsalainen, S, Martin, NG, Montgomery, GW, Kurki, MI, Hamalainen, E, Huang, HL, Huang, J, Sandor, C, Webber, C, Muller-Myhsok, B, Schreiber, S, Salomaa, V, Loehrer, E, Gobel, H, Macaya, A, Pozo-Rosich, P, Hansen, T, Werge, T, Kaprio, J, Metspalu, A, Kubisch, C, Ferrari, MD, Belin, AC, van den Maagdenberg, AMJM, Zwart, JA, Boomsma, D, Eriksson, N, Olesen, J, Chasman, DI, Nyholt, DR, Avbersek, A, Baum, L, Berkovic, S, Bradfield, J, Buono, R, Catarino, CB, Cossette, P, De Jonghe, P, Depondt, C, Dlugos, D, Ferraro, TN, French, J, Hjalgrim, H, Jamnadas-Khoda, J, Kalviainen, R, Kunz, WS, Lerche, H, Leu, C, Lindhout, D, Lo, W, Lowenstein, D, McCormack, M, Moller, RS, Molloy, A, Ng, PW, Oliver, K, Privitera, M, Radtke, R, Ruppert, AK, Sander, T, Schachter, S, Schankin, C, Scheffer, I, Schoch, S, Sisodiya, SM, Smith, P, Sperling, M, Striano, P, Surges, R, Thomas, GN, Visscher, F, Whelan, CD, Zara, F, Heinzen, EL, Marson, A, Becker, F, Stroink, H, Zimprich, F, Gasser, T, Gibbs, R, Heutink, P, Martinez, M, Morris, HR, Sharma, M, Ryten, M, Mok, KY, Pulit, S, Bevan, S, Holliday, E, Attia, J, Battey, T, Boncoraglio, G, Thijs, V, Chen, WM, Mitchell, B, Rothwell, P, Sharma, P, Sudlow, C, Vicente, A, Markus, H, Kourkoulis, C, Pera, J, Raffeld, M, Silliman, S, Perica, VB, Thornton, LM, Huckins, LM, Rayner, NW, Lewis, CM, Gratacos, M, Rybakowski, F, Keski-Rahkonen, A, Raevuori, A, Hudson, JI, Reichborn-Kjennerud, T, Monteleone, P, Karwautz, A, Mannik, K, Baker, JH, O'Toole, JK, Trace, SE, Davis, OSP, Helder, SG, Ehrlich, S, Herpertz-Dahlmann, B, Danner, UN, van Elburg, AA, Clementi, M, Forzan, M, Docampo, E, Lissowska, J, Hauser, J, Tortorella, A, Maj, M, Gonidakis, F, Tziouvas, K, Papezova, H, Yilmaz, Z, Wagner, G, Cohen-Woods, S, Herms, S, Julia, A, Rabionet, R, Dick, DM, Ripatti, S, Andreassen, OA, Espeseth, T, Lundervold, AJ, Steen, VM, Pinto, D, Scherer, SW, Aschauer, H, Schosser, A, Alfredsson, L, Padyukov, L, Halmi, KA, Mitchell, J, Strober, M, Bergen, AW, Kaye, W, Szatkiewicz, JP, Cormand, B, Ramos-Quiroga, JA, Sanchez-Mora, C, Ribases, M, Casas, M, Hervas, A, Arranz, MJ, Haavik, J, Zayats, T, Johansson, S, Williams, N, Dempfle, A, Rothenberger, A, Kuntsi, J, Oades, RD, Banaschewski, T, Franke, B, Buitelaar, JK, Vasquez, AA, Doyle, AE, Reif, A, Lesch, KP, Freitag, C, Rivero, O, Palmason, H, Romanos, M, Langley, K, Rietschel, M, Witt, SH, Dalsgaard, S, Borglum, AD, Waldman, I, Wilmot, B, Molly, N, Bau, CHD, Crosbie, J, Schachar, R, Loo, SK, McGough, JJ, Grevet, EH, Medland, SE, Robinson, E, Weiss, LA, Bacchelli, E, Bailey, A, Bal, V, Battaglia, A, Betancur, C, Bolton, P, Cantor, R, Celestino-Soper, P, Dawson, G, Rubeis, S, Duque, F, Green, A, Klauck, SM, Leboyer, M, Levitt, P, Maestrini, E, Mane, S, Moreno-De-Luca, D, Parr, J, Regan, R, Reichenberg, A, Sandin, S, Vorstman, J, Wassink, T, Wijsman, E, Cook, E, Santangelo, S, Delorme, R, Roge, B, Magalhaes, T, Arking, D, Schulze, TG, Thompson, RC, Strohmaier, J, Matthews, K, Melle, I, Morris, D, Blackwood, D, McIntosh, A, Bergen, SE, Schalling, M, Jamain, S, Maaser, A, Fischer, SB, Reinbold, CS, Fullerton, JM, Guzman-Parra, J, Mayoral, F, Schofield, PR, Cichon, S, Muhleisen, TW, Degenhardt, F, Schumacher, J, Bauer, M, Mitchell, PB, Gershon, ES, Rice, J, Potash, JB, Zandi, PP, Craddock, N, Ferrier, IN, Alda, M, Rouleau, GA, Turecki, G, Ophoff, R, Pato, C, Anjorin, A, Stahl, E, Leber, M, Czerski, PM, Cruceanu, C, Jones, IR, Posthuma, D, Andlauer, TFM, Forstner, AJ, Streit, F, Baune, BT, Air, T, Sinnamon, G, Wray, NR, MacIntyre, DJ, Porteous, D, Homuth, G, Rivera, M, Grove, J, Middeldorp, CM, Hickie, I, Pergadia, M, Mehta, D, Smit, JH, Jansen, R, de Geus, E, Dunn, E, Li, QQS, Nauck, M, Schoevers, RA, Beekman, ATF, Knowles, JA, Viktorin, A, Arnold, P, Barr, CL, Bedoya-Berrio, G, Bienvenu, OJ, Brentani, H, Burton, C, Camarena, B, Cappi, C, Cath, D, Cavallini, M, Cusi, D, Darrow, S, Denys, D, Derks, EM, Dietrich, A, Fernandez, T, Figee, M, Freimer, N, Gerber, G, Grados, M, Greenberg, E, Hanna, GL, Hartmann, A, Hirschtritt, ME, Hoekstra, PJ, Huang, A, Huyser, C, Illmann, C, Jenike, M, Kuperman, S, Leventhal, B, Lochner, C, Lyon, GJ, Macciardi, F, Madruga-Garrido, M, Malaty, IA, Maras, A, McGrath, L, Miguel, EC, Mir, P, Nestadt, G, Nicolini, H, Okun, MS, Pakstis, A, Paschou, P, Piacentini, J, Pittenger, C, Plessen, K, Ramensky, V, Ramos, EM, Reus, V, Richter, MA, Riddle, MA, Robertson, MM, Roessner, V, Rosario, M, Samuels, JF, Sandor, P, Stein, DJ, Tsetsos, F, Van Nieuwerburgh, F, Weatherall, S, Wendland, JR, Wolanczyk, T, Worbe, Y, Zai, G, Goes, FS, McLaughlin, N, Nestadt, PS, Grabe, HJ, Depienne, C, Konkashbaev, A, Lanzagorta, N, Valencia-Duarte, A, Bramon, E, Buccola, N, Cahn, W, Cairns, M, Chong, SA, Cohen, D, Crespo-Facorro, B, Crowley, J, Davidson, M, DeLisi, L, Dinan, T, Donohoe, G, Drapeau, E, Duan, J, Haan, L, Hougaard, D, Karachanak-Yankova, S, Khrunin, A, Klovins, J, Kucinskas, V, Keong, JLC, Limborska, S, Loughland, C, Lonnqvist, J, Maher, B, Mattheisen, M, McDonald, C, Murphy, KC, Nenadic, I, van Os, J, Pantelis, C, Pato, M, Petryshen, T, Quested, D, Roussos, P, Sanders, AR, Schall, U, Schwab, SG, Sim, K, So, HC, Stogmann, E, Subramaniam, M, Toncheva, D, Waddington, J, Walters, J, Weiser, M, Cheng, W, Cloninger, R, Curtis, D, Gejman, PV, Henskens, F, Mattingsdal, M, Oh, SY, Scott, R, Webb, B, Breen, G, Churchhouse, C, Bulik, CM, Daly, M, Dichgans, M, Faraone, SV, Guerreiro, R, Holmans, P, Kendler, KS, Koeleman, B, Mathews, CA, Price, A, Scharf, J, Sklar, P, Williams, J, Wood, NW, Cotsapas, C, Palotie, A, Smoller, JW, Sullivan, P, Rosand, J, Corvin, A, Neale, BM

المصدر: Science (New York, N.Y.). 360(6395):1313

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:138583241

المؤلفون: Sargurupremraj, M. (Muralidharan), Suzuki, H. (Hideaki), Jian, X. (Xueqiu), Sarnowski, C., Evans, T.E (Tavia), Bis, J.C. (Joshua), Eiriksdottir, G. (Gudny), Sakaue, S. (Saori), Terzikhan, N. (Natalie), Habes, M. (Mohamad), Zhao, W. (Wei), Armstrong, N.J. (Nicola J.), Hofer, E. (Edith), Yanek, L.R. (Lisa), Hagenaars, S.P. (Saskia P.), Kumar, R.B. (Rajan B.), Akker, E.B. (Erik) van den, McWhirter, R.E. (Rebekah E.), Trompet, S. (Stella), Mishra, A. (Aniket), Saba, Y. (Yasaman), Satizabal, C.L. (Claudia), Beaudet, G. (Gregory), Petit, L. (Laurent), Tsuchida, A. (Ami), Zago, L. (Laure), Schilling, S. (Sabrina), Sigurdsson, S. (Stefan), Gottesman, R.F. (Rebecca), Lewis, C.E. (Cora E.), Aggarwal, N.T. (Neelum T.), Lopez, O.L. (Oscar), Smith, J.A. (Jennifer A), Valdés Hernández, M.C. (Maria C.), van der Grond, J. (Jeroen), Wright, M.J. (Margaret), Knol, M.J. (Maria J.), Dörr, M. (Marcus), Thomson, R. (Russell), Bordes, C. (Constance), Le Grand, Q. (Quentin), Duperron, M.-G. (Marie-Gabrielle), Smith, A.V. (Albert), Knopman, D.S. (David), Schreiner, P.J. (Pamela), Evans, D.A. (Denis A.), Rotter, J.I. (Jerome I.), Beiser, A. (Alexa), Maniega, S.M. (Susana Muñoz), Beekman, M. (Marian), Trollor, J., Stott, D.J. (David. J.), Vernooij, M.W. (Meike), Wittfeld, K. (Katharina), Niessen, W.J. (Wiro), Soumaré, A. (Aicha), Boerwinkle, E.A. (Eric), Sidney, S. (Stephen), Turner, S.T. (Stephen), Davies, G. (Gail), Thalamuthu, A. (Anbupalam), Völker, U. (Uwe), Buchem, M.A. (Mark) van, Bryan, R.N. (R. Nick), Amin, N. (Najaf), Bastin, M.E. (Mark), Ames, D.J. (David), Teumer, A. (Alexander), Amouyel, P. (Philippe), Kwok, J.B. (John B.), Bülow, R. (Robin), Deary, I.J. (Ian), Schofield, P.R. (Peter R.), Brodaty, H. (Henry), Jiang, J. (Jiyang), Tabara, Y. (Yasuharu), Setoh, K. (Kazuya), Miyamoto, S. (Susumu), Yoshida, K. (Kazumichi), Nagata, M. (Manabu), Kamatani, Y. (Yoichiro), Matsuda, F. (Fumihiko), Psaty, B.M. (Bruce), Bennett, D.A. (David), De Jager, P., Mosley, T.H. (Thomas H.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Warren, H. (Helen), Evangelou, E. (Evangelos), Trégouët, D.-A. (David-Alexandre), Andrade, M. (Mariza) de, Basu, S. (Saonli), Berr, C. (Claudine), Brody, J.A. (Jennifer A.), Chasman, D.I. (Daniel I.), Dartigues, J.-F., Folsom, A.R. (Aaron), Germain, M. (Marine), de Haan, H. (Hugoline), Heit, J.A. (John), Houwing-Duitermaat, J. (Jeanine), Kabrhel, C. (Christopher), Kraft, P. (Peter), Legal, G. (Grégoire), Lindström, S. (Sara), Monajemi, R. (Ramin), Morange, P.-E. (P.), Psaty, B.M. (Bruce M.), Reitsma, P.H. (Pieter H.), Jarvelin, M.-R. (Marjo-Riitta), Rose, L.M. (Lynda M.), Peyvandi, F. (Flora), Saut, N. (Noemie), Slagboom, E. (Eline), Smadja, D. (David), Smith, N.L. (Nicholas L.), Suchon, P. (Pierre), Tang, W. (Weihong), Taylor, K.D. (Kent D.), Tregouet, D.-A. (David-Alexandre), Tzourio, C. (Christophe), Visser, M.C.H. (Marieke) de, Hylckama Vlieg, A. (Astrid) van, Weng, L.-C., Wiggins, K.L. (Kerri L.), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tõnu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela M.), Todt, U. (Unda), Freilinger, T.M. (Tobias M.), Ran, C. (Caroline), Gordon, S.G. (Scott G.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Gudlaug Hrafnsdottir, M. (Maria), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew), Madden, P.A.F. (Pamela A. F.), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Francke Christensen, A. (Anne), Folkmann Hansen, T. (Thomas), Werge, T. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (M. Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), van den Maagdenberg, A.M.J.M. (Arn M. J. M.), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Davey Smith, G. (George), Eriksson, N. (Nicholas), Daly, M.J. (Mark), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel), Nyholt, D.R. (Dale), Palotie, A. (Aarno), Ikram, M.A. (Arfan), Wen, W. (Wei), DeCarli, C. (Charles), Srikanth, V. (Velandai), Jukema, J.W. (Jan Wouter), Slagboom, P.E. (Eline), Kardia, S.L.R. (Sharon), Okada, Y. (Yukinori), Mazoyer, B. (Bernard), Wardlaw, J.M. (J.), Nyquist, P. (Paul), Mather, R., Grabe, H.J. (Hans Jörgen), Schmidt, H. (Helena), Van Duijn, C.M. (Cornelia M.), Gudnason, V. (Vilmundur), Longstreth Jr, W.T., Launer, L.J. (Lenore), Lathrop, M. (Mark), Seshadri, S. (Sudha), Adams, H.H.H. (Hieab), Matthews, P.M. (P.), Fornage, M. (Myriam), Debette, S. (Stéphanie)

المصدر: Nature Communications vol. 11 no. 1

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/132445; urn:hdl:1765/132445

الاتاحة: http://repub.eur.nl/pub/132445
https://doi.org/10.1038/s41467-020-19111-2

المؤلفون: Guo, Y. (Yanjun), Rist, P.M. (Pamela M.), Daghlas, I. (Iyas), Giulianini, F. (Franco), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tonu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela), Todt, U. (Unda), Müller-Myhsok, B. (Bertram), Ran, C. (Caroline), Gordon, S.D. (Scott D.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie E.), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Hrafnsdottir, M.G. (Maria Gudlaug), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda W. J. H.), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew C.), Madden, P.A. (Pamela), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Christensen, A.F. (Anne Francke), Hansen, T. (Thomas), Werge, T.M. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), Maagdenberg, A.M.J.M. (Arn M. J. M. van den), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Smith, G.D. (George Davey), Stefansson, K. (Kari), Eriksson, N. (Nicholas), Daly, M.J. (Mark J.), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel I.), Nyholt, D.R. (Dale R.), Palotie, A. (Aarno), Agee, M. (Michelle), Auton, A. (Adam), Bell, R.K. (Robert K.), Bryc, K. (Katarzyna), Elson, S.L. (Sarah L.), Fontanillas, P. (Pierre), Huber, K.E. (Karen E.), Kleinman, A. (Aaron), Litterman, N.K. (Nadia K.), McCreight, J.C. (Jennifer C.), McIntyre, M.H. (Matthew H.), Mountain, J.L. (Joanna L.), Noblin, E.S. (Elizabeth S.), Northover, C.A.M. (Carrie A. M.), Pitts, S.J. (Steven J.), Sathirapongsasuti, J.F. (J. Fah), Sazonova, O.V. (Olga V.), Shelton, J.F. (Janie F.), Shringarpure, S. (Suyash), Tian, C. (Chao), Tung, J.Y. (Joyce Y.), Vacic, V. (Vladimir), Kurth, K.H. (Karl), Chasman, D.I. (Daniel)

المصدر: Nature Communications vol. 11 no. 1

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/128648; urn:hdl:1765/128648

الاتاحة: http://repub.eur.nl/pub/128648
https://doi.org/10.1038/s41467-020-17002-0

المؤلفون: Gormley, P, Anttila, V, Winsvold, BS, Palta, P, Esko, T, Pers, TH, Farh, K-H, Cuenca-Leon, E, Muona, M, Furlotte, NA, Kurth, T, Ingason, A, McMahon, G, Ligthart, L, Terwindt, GM, Kallela, M, Freilinger, TM, Ran, C, Gordon, SG, Stam, AH, Steinberg, S, Borck, G, Koiranen, M, Quaye, L, Adams, HHH, Lehtimäki, T, Sarin, A-P, Wedenoja, J, Hinds, DA, Buring, JE, Schürks, M, Ridker, PM, Hrafnsdottir, MG, Stefansson, H, Ring, SM, Hottenga, J-J, Penninx, BWJH, Färkkilä, M, Artto, V, Kaunisto, M, Vepsäläinen, S, Malik, R, Heath, AC, Madden, PAF, Martin, NG, Montgomery, GW, Kurki, MI, Kals, M, Mägi, R, Webber, C, Cader, Z, al., Et

مصطلحات موضوعية: Migraine, Genome-wide association studies

Relation: https://ora.ox.ac.uk/objects/uuid:a5d26bd9-95ff-4e4e-ae56-781d89327243; https://doi.org/10.1038/ng.3598

الاتاحة: https://doi.org/10.1038/ng.3598
https://ora.ox.ac.uk/objects/uuid:a5d26bd9-95ff-4e4e-ae56-781d89327243

المؤلفون: Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., Hennies, H.C.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/20559/1/20559oa.pdf; http://edoc.mdc-berlin.de/20559/7/20559suppl.zip; Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Lima Cunha, D. and Alakloby, O.M. and Gruber, R. and Kakar, N. and Ahmad, J. and Alawbathani, S. and Plank, R. and Eckl, K. and Krabichler, B. and Altmüller, J. and Nürnberg, P. and Zschocke, J. and Borck, G. and Schmuth, M. and Alabdulkareem, A.S. and Abdulaziz Alnutaifi, K. and Hennies, H.C. Molecular Genetics & Genomic Medicine 7 (3): e539. March 2019

الاتاحة: http://edoc.mdc-berlin.de/20559/
https://edoc.mdc-berlin.de/20559/
http://edoc.mdc-berlin.de/20559/1/20559oa.pdf
http://edoc.mdc-berlin.de/20559/7/20559suppl.zip
https://doi.org/10.1002/mgg3.539

المؤلفون: Meester, JAN, Sukalo, M, Schroeder, KC, Schanze, D, Baynam, G, Borck, G, Bramswig, NC, Duman, D, Gilbert-Dussardier, B, Holder-Espinasse, M, Itin, P, Johnson, DS, Joss, S, Koillinen, H, McKenzie, F, Morton, J, Nelle, H, Reardon, W, Roll, C, Salih, MA, Savarirayan, R, Scurr, I, Splitt, M, Thompson, E, Titheradge, H, Travers, CP, Van Maldergem, L, Whiteford, M, Wieczorek, D, Vandeweyer, G, Trembath, R, Van Laer, L, Loeys, BL, Zenker, M, Southgate, L, Wuyts, W

Relation: Meester, J. A. N., Sukalo, M., Schroeder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C. ,. Wuyts, W. (2018). Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. HUMAN MUTATION, 39 (9), pp.1246-1261. https://doi.org/10.1002/humu.23567.; http://hdl.handle.net/11343/248148

الاتاحة: http://hdl.handle.net/11343/248148

المؤلفون: Johnston, JJ, van der Smagt, JJ, Rosenfeld, JA, Pagnamenta, AT, Alswaid, A, Baker, EH, Blair, E, Borck, G, Brinkmann, J, Craigen, W, Dung, VC, Emrick, L, Everman, DB, van Gassen, KL, Gulsuner, S, Harr, MH, Jain, M, Kuechler, A, Leppig, KA, McDonald-McGinn, DM, Can, NTB, Peleg, A, Roeder, ER, Rogers, RC, Sagi-Dain, L, Sapp, JC, Schäffer, AA, Schanze, D, Stewart, H, Taylor, JC, Verbeek, NE, Walkiewicz, MA, Zackai, EH, Zweier, C, Zenker, M, Lee, B, Biesecker, LG

Relation: https://ora.ox.ac.uk/objects/uuid:c29229d7-33c1-4b5c-af15-035ae3abd243; https://doi.org/10.1038/gim.2017.249

الاتاحة: https://doi.org/10.1038/gim.2017.249
https://ora.ox.ac.uk/objects/uuid:c29229d7-33c1-4b5c-af15-035ae3abd243

المؤلفون: Flöttmann, R., Kragesteen, B., Geuer, S., Socha, M., Allou, L., Sowińska-Seidler, A., Bosquillon de Jarcy, L., Wagner, J., Jamsheer, A., Oehl-Jaschkowitz, B., Wittler, L., de Silva, D., Kurth, I., Maya, I., Santos-Simarro, F., Hülsemann, W., Klopocki, E., Mountford, R., Fryer, A., Borck, G., Horn, D., Lapunzina, P., Wilson, M., Mascrez, B., Duboule, D., Mundlos, S., Spielmann, M.

المصدر: GENETICS IN MEDICINE

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0003-5C96-D; http://hdl.handle.net/21.11116/0000-0003-5C98-B

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-5C96-D
http://hdl.handle.net/21.11116/0000-0003-5C98-B

المؤلفون: Müller, K., Brenner, D., Weydt, P., Meyer, T., Grehl, T., Petri, S., Grosskreutz, J., Schuster, J., Volk, A.E., Borck, G., Kubisch, C., Klopstock, T., Zeller, D., Jablonka, S., Sendtner, M., Klebe, S., Knehr, A., Günther, K., Weis, J., Claeys, K.G., Schrank, B., Sperfeld, A.D., Hübers, A., Otto, M., Dorst, J., Meitinger, T., Strom, T.M., Andersen, P.M., Ludolph, A.C., Weishaupt, J.H.

المصدر: J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Genetics, Whole Exome Sequencing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29650794; info:eu-repo/semantics/altIdentifier/wos/WOS:000442475000013; info:eu-repo/semantics/altIdentifier/isbn/0022-3050; info:eu-repo/semantics/a; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53741; urn:isbn:0022-3050; urn:issn:0022-3050; urn:issn:1468-330X

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53741
https://doi.org/10.1136/jnnp-2017-317611

المؤلفون: Borck, G., Hög, Friederike, Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmueller, J., Reymond, A., Nurnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P., Kubisch, C.

المساهمون: Borck, G., Hög, Friederike, Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmueller, J., Reymond, A., Nurnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P., Kubisch, C.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/3068; 000348974500001; 3141967

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/3068
https://doi.org/10.1101/gr.176925.114

المؤلفون: Skopkova, M., Hennig, F., Shin, B., Turner, C., Stanikova, D., Brennerova, K., Stanik, J., Fischer, U., Henden, L., Müller, U., Steinberger, D., Leshinsky-Silver, E., Bottani, A., Kurdiova, T., Ukropec, J., Nyitrayova, O., Kolnikova, M., Klimes, I., Borck, G., Bahlo, M., Haas, S., Kim, J., Lotspeich-Cole, L., Gasperikova, D., Dever, T., Kalscheuer, V.

المصدر: Human Mutation

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1098-1004 (Electronic)1059-7794 (Print); http://hdl.handle.net/21.11116/0000-0000-78AD-7; http://hdl.handle.net/21.11116/0000-0000-78AF-5

الاتاحة: http://hdl.handle.net/21.11116/0000-0000-78AD-7
http://hdl.handle.net/21.11116/0000-0000-78AF-5

المؤلفون: Ludwig, KU, Ahmed, ST, Bohmer, AC, Sangani, NB, Varghese, S, Klamt, J, Schuenke, H, Gultepe, P, Hofmann, A, Rubini, M, Aldhorae, KA, Steegers - Theunissen, Régine, Rojas-Martinez, A, Reiter, R, Borck, G, Knapp, M, Nakatomi, M, Graf, D, Mangold, E, Peters, H

المصدر: Ludwig , KU , Ahmed , ST , Bohmer , AC , Sangani , NB , Varghese , S , Klamt , J , Schuenke , H , Gultepe , P , Hofmann , A , Rubini , M , Aldhorae , KA , Steegers - Theunissen , R , Rojas-Martinez , A , Reiter , R , Borck , G , Knapp , M , Nakatomi , M , Graf , D , Mangold , E & Peters , H 2016 , ' Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC025201A, name=EMC MGC-02-52-01-A

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a5cad65f-9514-47ee-aa1d-7fc10d752eba
https://doi.org/10.1371/journal.pgen.1005914
https://pure.eur.nl/ws/files/47679273/journal.pgen.1005914.PDF
http://hdl.handle.net/1765/87073

المؤلفون: Mangold, E, Böhmer, AC, Ishorst, N, Hoebel, AK, Gültepe, P, Schuenke, H, Klamt, J, Hofmann, A, Gölz, L, Raff, R, Tessmann, P, Nowak, S, Reutter, H, Hemprich, A, Kreusch, T, Kramer, FJ, Braumann, B, Reich, R, Schmidt, G, Jäger, A, Reiter, R, Brosch, S, Stavusis, J, Ishida, M, Seselgyte, R, Moore, GE, Nöthen, MM, Borck, G, Aldhorae, KA, Lace, B, Stanier, P, Knapp, M, Ludwig, KU

المصدر: American Journal of Human Genetics , 98 (4) pp. 755-762. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1478099/7/Stanier_GRHL3%20submitted%20AJHG.pdf; https://discovery.ucl.ac.uk/id/eprint/1478099/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1478099/7/Stanier_GRHL3%20submitted%20AJHG.pdf
https://discovery.ucl.ac.uk/id/eprint/1478099/

المؤلفون: Spielmann, M., Marx, S., Barbi, G., Flottmann, R., Kehrer-Sawatzki, H., Konig, R., Horn, D., Mundlos, S., Nader, S., Borck, G.

المصدر: American Journal of Medical Genetics Part A

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1552-4833 (Electronic)1552-4825 (Print); http://hdl.handle.net/11858/00-001M-0000-002D-E1C7-7; http://hdl.handle.net/11858/00-001M-0000-002D-E1C9-3

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002D-E1C7-7
http://hdl.handle.net/11858/00-001M-0000-002D-E1C9-3

المؤلفون: Gormley, P, Anttila, V, Winsvold, BS, Palta, P, Esko, T, Pers, TH, Farh, KH, Cuenca-Leon, E, Muona, M, Furlotte, NA, Kurth, T, Ingason, A, McMahon, G, Ligthart, L, Terwindt, GM, Kallela, M, Freilinger, TM, Ran, C, Gordon, SG, Stam, AH, Steinberg, S, Borck, G, Koiranen, M, Quaye, L, Adams, HHH, Lehtimäki, T, Sarin, AP, Wedenoja, J, Hinds, DA, Buring, JE, Schürks, M, Ridker, PM, Gudlaug Hrafnsdottir, M, Stefansson, H, Ring, SM, Hottenga, JJ, Penninx, BWJH, Färkkilä, M, Artto, V, Kaunisto, M, Vepsäläinen, S, Malik, R, Heath, AC, Madden, PAF, Martin, NG, Montgomery, GW, Kurki, MI, Kals, M, Mägi, R, Pärn, K, Hämäläinen, E, Huang, H, Byrnes, AE, Franke, L, Huang, J, Stergiakouli, E, Lee, PH, Sandor, C, Webber, C, Cader, Z, Muller-Myhsok, B, Schreiber, S, Meitinger, T, Eriksson, JG, Salomaa, V, Heikkilä, K, Loehrer, E, Uitterlinden, AG, Hofman, A, Van Duijn, CM, Cherkas, L, Pedersen, LM, Stubhaug, A, Nielsen, CS, Männikkö, M, Mihailov, E, Milani, L, Göbel, H, Esserlind, AL, Francke Christensen, A, Folkmann Hansen, T, Werge, T, Kaprio, J, Aromaa, AJ, Raitakari, O, Arfan Ikram, M, Spector, T, Järvelin, MR, Metspalu, A, Kubisch, C, Strachan, DP, Ferrari, MD, Belin, AC, Dichgans, M, Wessman, M, Van den Maagdenberg, AMJM, Zwart, JA, Boomsma, DI, Davey Smith, G

المصدر: 1296.

مصطلحات موضوعية: 06 Biological Sciences, 11 Medical and Health Sciences, Developmental Biology

Relation: Nature Genetics; http://hdl.handle.net/10044/1/85207

الاتاحة: http://hdl.handle.net/10044/1/85207
https://doi.org/10.1038/ng1016-1296c

المؤلفون: Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D., Hübers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K.M., Volk, A.E., Meitinger, T., Strom, T.M., Otto, M., Kassubek, J., Ludolph, A.C., Andersen, P.M., Weishaupt, J.H.

المصدر: Brain 139:e28 (2016)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/26945885; info:eu-repo/semantics/altIdentifier/wos/WOS:000376107200001; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48054; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48054
https://doi.org/10.1093/brain/aww033

المؤلفون: Marroquin, N., Stranz, S., Müller, K., Wieland, T., Ruf, W.P., Brockmann, S.J., Danzer, K.M., Borck, G., Hübers, A., Weydt, P., Meitinger, T., Strom, T.M., Rosenbohm, A., Ludolph, A.C., Weishaupt, J.H.

المصدر: Brain 139, E8-U10 (2016)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/26362909; info:eu-repo/semantics/altIdentifier/wos/WOS:000370205100001; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46792; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46792
https://doi.org/10.1093/brain/awv218