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1دورية أكاديمية
المؤلفون: Winsvold, BS, Harder, AVE, Ran, C, Chalmer, MA, Dalmasso, MC, Ferkingstad, E, Tripathi, KP, Bacchelli, E, Borte, S, Fourier, C, Petersen, AS, Vijfhuizen, LS, Magnusson, SH, O'Connor, E, Bjornsdottir, G, Happola, P, Wang, YF, Callesen, I, Kelderman, T, Gallardo, VJ, de Boer, I, Olofsgard, FJ, Heinze, K, Lund, N, Thomas, LF, Hsu, CL, Pirinen, M, Hautakangas, H, Ribases, M, Guerzoni, S, Sivakumar, P, Yip, J, Heinze, A, Kucukali, F, Ostrowski, SR, Pedersen, OB, Kristoffersen, ES, Martinsen, AE, Artigas, MS, Lagrata, S, Cainazzo, MM, Adebimpe, J, Quinn, O, Gobel, C, Cirkel, A, Volk, AE, Heilmann-Heimbach, S, Skogholt, AH, Gabrielsen, ME, Wilbrink, LA, Danno, D, Mehta, D, Guobjartsson, DF, Rosendaal, FR, van Dijk, KW, Fronczek, R, Wagner, M, Scherer, M, Gobel, H, Sleegers, K, Sveinsson, OA, Pani, L, Zoli, M, Ramos-Quiroga, JA, Dardiotis, E, Steinberg, A, Riedel-Heller, S, Sjostrand, C, Thorgeirsson, TE, Stefansson, H, Southgate, L, Trembath, RC, Vandrovcova, J, Noordam, R, Paemeleire, K, Stefansson, K, Fann, CSJ, Waldenlind, E, Tronvik, E, Jensen, RH, Chen, SP, Houlden, H, Terwindt, GM, Kubisch, C, Maestrini, E, Vikelis, M, Pozo-Rosich, P, Belin, AC, Matharu, M, van den Maagdenberg, AMJM, Hansen, TF, Ramirez, A, Zwart, JA
المصدر: Annals of neurology. 94(4):713-726
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Mailer, RK, Allende, M, Heestermans, M, Schweizer, M, Deppermann, C, Frye, M, Pula, G, Odeberg, J, Gelderblom, M, Rose-John, S, Sickmann, A, Blankenberg, S, Huber, TB, Kubisch, C, Maas, C, Gambaryan, S, Firsov, D, Stavrou, EX, Butler, LM, Renne, T
المصدر: Blood. 137(10):1392-1405
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Yang, YH, Zhao, HY, Boomsma, DI, Ligthart, L, Belin, AC, Smith, GD, Esko, T, Freilinger, TM, Hansen, TF, Ikram, MA, Kallela, M, Kubisch, C, Paraskevi, C, Strachan, DP, Wessman, M, van den Maagdenberg, AMJM, Terwindt, GM, Nyholt, DR
المصدر: European journal of human genetics : EJHG. 26(8):1202-1216
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Lill, CM, Liu, T, Schjeide, BMM, Roehr, JT, Akkad, DA, Damotte, V, Alcina, A, Ortiz, MA, Arroyo, R, de Lapuente, AL, Blaschke, P, Winkelmann, A, Gerdes, LA, Luessi, F, Fernadez, O, Izquierdo, G, Antiguedad, A, Hoffjan, S, Cournu-Rebeix, I, Gromoller, S, Faber, H, Liebsch, M, Meissner, E, Chanvillard, C, Touze, E, Pico, F, Corcia, P, Dorner, T, Steinhagen-Thiessen, E, Baeckman, L, Heekeren, HR, Li, SC, Lindenberger, U, Chan, A, Hartung, HP, Aktas, O, Lohse, P, Kumpfel, T, Kubisch, C, Epplen, JT, Zettl, UK, Fontaine, B, Vandenbroeck, K, Matesanz, F, Urcelay, E, Bertram, L, Zipp, F
المصدر: Journal of medical genetics. 49(9):558-562
مصطلحات موضوعية: Medicin och hälsovetenskap
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5مؤتمر
المؤلفون: Arndt, N., Voß, H., Mair, T., Schlüter, H., Förster, L., Knochenhauer, T., Sachse, M., Beyer, M., Leonhardt, M., Von Kodolitsch, Y., Schlein, C., Kubisch, C., Reichenspurner, H., Detter, C., Rosenberger, G., Demal, T.J.
المصدر: The Thoracic and Cardiovascular Surgeon ; 53rd Annual Meeting of the German Society for Thoracic and Cardiovascular Surgery (DGTHG) ; ISSN 1439-1902
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6دورية أكاديمية
المؤلفون: Robazza, A., Welter, C., Kubisch, C., Baleeiro, Flavio Cesar, Ochsenreither, K., Neumann, A.
المصدر: ISSN: 2311-5637.
مصطلحات موضوعية: open culture, carbon monoxide, gasification, biomass conversion, bioremediation, biomethanation, chain elongation, volatile fatty acids
وصف الملف: application/pdf
العلاقة: https://www.ufz.de/index.php?en=20939&ufzPublicationIdentifier=26671Test; https://dx.doi.org/10.3390/fermentation8100512Test
الإتاحة: https://doi.org/10.3390/fermentation8100512Test
https://www.ufz.de/index.php?en=20939&ufzPublicationIdentifier=26671Test -
7دورية أكاديمية
المؤلفون: Lessel, D., Rading, K., Campbell, S.E., Thiele, H., Altmüller, J., Gordon, L.B., Kubisch, C.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; application/msword
العلاقة: http://edoc.mdc-berlin.de/20976/1/20976oa.pdfTest; http://edoc.mdc-berlin.de/20976/2/20976suppl.docxTest; A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies. Lessel, D. and Rading, K. and Campbell, S.E. and Thiele, H. and Altmüller, J. and Gordon, L.B. and Kubisch, C. American Journal of Medical Genetics A 188 (1): 216-223. January 2022
الإتاحة: https://doi.org/10.1002/ajmg.a.62525Test
http://edoc.mdc-berlin.de/20976Test/
https://edoc.mdc-berlin.de/20976Test/
http://edoc.mdc-berlin.de/20976/1/20976oa.pdfTest
http://edoc.mdc-berlin.de/20976/2/20976suppl.docxTest -
8دورية أكاديمية
المؤلفون: Kogelman, LJA, Esserlind, AL, Christensen, AF, Awasthi, S, Ripke, S, Ingason, A, Davidsson, OB, Erikstrup, C, Hjalgrim, H, Ullum, H, Olesen, J, Hansen, TF, Gudbjartsson, D, Gastafsson, O, Stefansson, K, Stefansson, H, Porsteinsdottir, U, Andersen, S, Banasik, K, Brunak, S, Buil, A, Burgdorf, K, Gregor, J, Jennum, P, Nielsen, KR, Nyegaard, M, Paarup, HM, Pedersen, OB, Sorensen, E, Werge, T, Anttila, V, Artto, V, Belin, AC, de Boer, I, Boomsma, DI, Borte, S, Chasman, DI, Cherkas, L, Cormand, B, Cuenca-Leon, E, Davey-Smith, G, Dichgans, M, van Duijn, C, Esko, T, Ferrari, M, Frants, RR, Freilinger, T, Furlotte, N, Gormley, P, Griffiths, L, Hamalainen, E, Hiekkala, M, Ikram, MA, Jarvelin, MR, Kajanne, R, Kallela, M, Kaprio, J, Kaunisto, M, Kubisch, C, Kurki, M, Kurth, T, Launer, L, Lehtimaki, T, Lessel, D, Ligthart, L, Litterman, N, van den Maagdenberg, A, Macaya, A, Malik, R, Mangino, M, McMahon, G, Muller-Myhsok, B, Neale, BM, Northover, C, Nyholt, DR, Palotie, A, Palta, P, Pedersen, L, Pedersen, N, Posthuma, D, Pozo-Rosich, P, Pressman, A, Raitakari, O, Schurks, M, Sintas, C, Steinberg, S, Strachan, D, Terwindt, G, Vila-Pueyo, M, Wessman, M, Winsvold, BS, Zhao, HY, Zwart, JA
المصدر: Neurology. Genetics. 5(6):e364
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper
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9دورية أكاديمية
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
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10دورية أكاديمية
المؤلفون: Mannucci, I., Dang, N.D.P., Huber, H., Murry, J.B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P.J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L.A., Braathen, G.J., Busk, O.L., Chenbhanich, J., Denecke, J., Escobar, L.F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C.A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U.W., Brenman, L.M., Martinez-Agosto, J.A., Might, M., Miller, D.T., Minks, K.Q., Moghaddam, B., Nava, C., Nelson, S.F., Parant, J.M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S.F., Schuurs-Hoeijmakers, J., Shieh, P.B., Stegmann, A.P.A., Yeo, Nan Cher, Kreienkamp, Hans-Jurgen, Lessel, Davor
المصدر: Mannucci , I , Dang , N D P , Huber , H , Murry , J B , Abramson , J , Althoff , T , Banka , S , Baynam , G , Bearden , D , Beleza-Meireles , A , Benke , P J , Berland , S , Bierhals , T , Bilan , F , Bindoff , L A , Braathen , G J , Busk , O L , Chenbhanich , J , Denecke , J , Escobar , L F , Estes , C , Fleischer , J , Groepper , D ....
مصطلحات موضوعية: RNA HELICASE, INTELLECTUAL DISABILITY, MEDICAL GENETICS, AMERICAN-COLLEGE, MUTATIONS, AUTISM, IDENTIFICATION, GUIDELINES, STANDARDS, REVEALS
الإتاحة: https://doi.org/10.1186/s13073-021-00900-3Test
https://cris.maastrichtuniversity.nl/en/publications/c1c6e7ce-7f56-4e3c-b4c5-63defe44c7f9Test