المؤلفون: Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton, L, Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha, J, Nguyen, Khanh-Dung H, Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten, M, Wijeyekoon, Ruwani, van Deerlin, Vivianna, M, Hernandez, Dena, G, Day-Williams, Aaron, G, Brice, Alexis, Alves, Guido, Noyce, Alastair, J, Tysnes, Ole-Bjørn, Evans, Jonathan, R, Breen, David, P, Estrada, Karol, Wegel, Claire, E, Danjou, Fabrice, Simon, David, K, Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan, R, Weintraub, Daniel, Barker, Roger, A, Williams-Gray, Caroline, H, van de Warrenburg, Bart, P, van Hilten, Jacobus, J, Scherzer, Clemens, R, Singleton, Andrew, B, Nalls, Mike, A

المساهمون: National Institutes of Health Bethesda, MD, USA (NIH), Harvard Medical School Boston (HMS), Stavanger University Hospital, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Oslo University Hospital Oslo, Radboud University Medical Center Nijmegen, The Michael J Fox Foundation for Parkinson's Research, University of Pennsylvania, University of Rochester USA, University of Cambridge UK (CAM), Queen Mary University of London (QMUL), University of Bergen (UiB), Nottingham University Hospitals NHS Trust (NUH), University of Edinburgh (Edin.), Beth Israel Deaconess Medical Center Boston (BIDMC), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University

المصدر: EISSN: 2376-7839 ; Neurology Genetics ; https://hal.sorbonne-universite.fr/hal-04513221Test ; Neurology Genetics, 2024, 5, ⟨10.1212/nxg.0000000000000348⟩

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31404238; hal-04513221; https://hal.sorbonne-universite.fr/hal-04513221Test; https://hal.sorbonne-universite.fr/hal-04513221/documentTest; https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest; PUBMED: 31404238; PUBMEDCENTRAL: PMC6659137

الإتاحة: https://doi.org/10.1212/nxg.0000000000000348Test
https://hal.sorbonne-universite.fr/hal-04513221Test
https://hal.sorbonne-universite.fr/hal-04513221/documentTest
https://hal.sorbonne-universite.fr/hal-04513221/file/NXG.0000000000000348.pdfTest

المؤلفون: Leonard, Hampton L., Nalls, Mike A., Day-Williams, Aaron, Esmaeeli, Sahar, Jarreau, Paige, Bandres-Ciga, Sara, Heutink, Peter, Sardi, S. Pablo, Singleton, Andrew B.

المصدر: Nature Reviews Drug Discovery ; ISSN 1474-1776 1474-1784

مصطلحات موضوعية: Drug Discovery, Pharmacology, General Medicine

الإتاحة: https://doi.org/10.1038/d41573-024-00017-3Test
https://www.nature.com/articles/d41573-024-00017-3.pdfTest
https://www.nature.com/articles/d41573-024-00017-3Test

المؤلفون: Dorothée Diogo, Chao Tian, Christopher S. Franklin, Mervi Alanne-Kinnunen, Michael March, Chris C. A. Spencer, Ciara Vangjeli, Michael E. Weale, Hannele Mattsson, Elina Kilpeläinen, Patrick M. A. Sleiman, Dermot F. Reilly, Joshua McElwee, Joseph C. Maranville, Arnaub K. Chatterjee, Aman Bhandari, Khanh-Dung H. Nguyen, Karol Estrada, Mary-Pat Reeve, Janna Hutz, Nan Bing, Sally John, Daniel G. MacArthur, Veikko Salomaa, Samuli Ripatti, Hakon Hakonarson, Mark J. Daly, Aarno Palotie, David A. Hinds, Peter Donnelly, Caroline S. Fox, Aaron G. Day-Williams, Robert M. Plenge, Heiko Runz

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/cb9fc601268446ca86cfc25a436b40c6Test

المؤلفون: Corneliu A. Bodea, Adele A. Mitchell, Alex Bloemendal, Aaron G. Day-Williams, Heiko Runz, Shamil R. Sunyaev

المصدر: Genome Biology, Vol 19, Iss 1, Pp 1-17 (2018)

مصطلحات موضوعية: Noncoding variant, Computational functionality prediction, Epigenetic regulation, Cell type specificity, Functional scoring, Variant prioritization, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13059-018-1546-6Test; https://doaj.org/toc/1474-760XTest

الوصول الحر: https://doaj.org/article/01dfcfcedd2d4a578c8bac8e1ec8674cTest

المؤلفون: Day-Williams, Michaela Joanne

مصطلحات موضوعية: 571.29

الوصول الحر: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.515262Test

المؤلفون: Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton L., Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Hutten, Samantha J., Nguyen, Khanh-Dung H., Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten M., Wijeyekoon, Ruwani, van Deerlin, Vivianna M., Hernandez, Dena G., Day-Williams, Aaron G., Brice, Alexis, Alves, Guido Werner, Noyce, Alastair J., Tysnes, Ole-Bjørn, Evans, Jonathan R., Breen, David P., Estrada, Karol, Wegel, Claire E., Danjou, Fabrice, Simon, David K., Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan R., Weintraub, Daniel, Barker, Roger A., Williams-Gray, Caroline H., van de Warrenburg, Bart P., van Hilten, Jacobus J., Scherzer, Clemens R., Singleton, Andrew B., Nalls, Mike A.

المصدر: Neurology: Genetics

وصف الملف: application/pdf

العلاقة: urn:issn:2376-7839; https://hdl.handle.net/1956/23539Test; https://doi.org/10.1212/nxg.0000000000000348Test; cristin:1748394

الإتاحة: https://doi.org/10.1212/nxg.0000000000000348Test
https://hdl.handle.net/1956/23539Test

المؤلفون: Leonard, Hampton, Blauwendraat, Cornelis, Krohn, Lynne, Faghri, Faraz, Iwaki, Hirotaka, Ferguson, Glen, Day-Williams, Aaron G, Stone, David J, Singleton, Andrew B, Nalls, Mike A, Gan-Or, Ziv, On behalf of the International Parkinson's Disease Genomic Consortium (IPDGC), Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrión-Claro, Fátima Carrillo Mario, Viorica Chelban, Debora Cerdan, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Kulisevsky, Jaime, ALabrador-Espinosa, Miguel, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Torres, Irene Martínez, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Errazquin, Francisco Perez, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Keuren-Jensen, Kendall Van, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., Coelln, Rainervon, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Keng-Han Lin, Aaron Kleinman, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao

مصطلحات موضوعية: Neurogenetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/57/5/331Test; http://dx.doi.org/10.1136/jmedgenet-2019-106283Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106283Test
http://jmg.bmj.com/cgi/content/short/57/5/331Test

المؤلفون: Karol Estrada, Christopher W. Whelan, Fengmei Zhao, Paola Bronson, Robert E. Handsaker, Chao Sun, John P. Carulli, Tim Harris, Richard M. Ransohoff, Steven A. McCarroll, Aaron G. Day-Williams, Benjamin M. Greenberg, Daniel G. MacArthur

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/097b3f04c35840e1a363fdf27d852415Test

المؤلفون: Evangelou, Evangelos, Kerkhof, Hanneke J., Styrkarsdottir, Unnur, Ntzani, Evangelia E., Bos, Steffan D., Esko, Tonu, Evans, Daniel S., Metrustry, Sarah, Panoutsopoulou, Kalliope, Ramos, Yolande F. M., Thorleifsson, Gudmar, Tsilidis, Konstantinos K., Arden, Nigel, Aslam, Nadim, Bellamy, Nicholas, Birrell, Fraser, Blanco, Francisco J., Carr, Andrew, Chapman, Kay, Day-Williams, Aaron G., Deloukas, Panos, Doherty, Michael, Engström, Gunnar, Helgadottir, Hafdis T., Hofman, Albert, Ingvarsson, Thorvaldur, Jonsson, Helgi, Keis, Aime, Keurentjes, J. Christiaan, Kloppenburg, Margreet, Lind, Penelope A., McCaskie, Andrew, Martin, Nicholas G., Milani, Lili, Montgomery, Grant W., Nelissen, Rob G. H. H., Nevitt, Michael C., Nilsson, Peter, Ollier, William E. R., Parimi, Neeta, Rai, Ashok, Ralston, Stuart H., Reed, Mike R., Riancho, Jose A., Rivadeneira, Fernando, Rodriguez-Fontenla, Cristina, Southam, Lorraine, Thorsteinsdottir, Unnur, Tsezou, Aspasia, AWallis, Gillian, Wilkinson, J. Mark, Gonzalez, Antonio, Lane, Nancy E., Lohmander, Stefan, Loughlin, John, Metspalu, Andres, Uitterlinden, Andre G., Jonsdottir, Ingileif, Stefansson, Kari, Slagboom, P. Eline, Zeggini, Eleftheria, Meulenbelt, Ingrid, Ioannidis, John P. A., Spector, Tim D., van Meurs, Joyce B. J., Valdes, Ana M.

المصدر: Annals of the Rheumatic Diseases EpiHealth: Epidemiology for Health. 73(12):2130-2136

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Reumatologi och inflammation, Medical and Health Sciences, Clinical Medicine, Rheumatology and Autoimmunity

وصف الملف: electronic

الوصول الحر: https://lup.lub.lu.se/record/4982802Test
https://portal.research.lu.se/files/3842252/7695375Test
http://dx.doi.org/10.1136/annrheumdis-2012-203114Test

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

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