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1دورية أكاديمية
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
المصدر: Annals of neurology. 82(6):1004-1015
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Nobre, L, Zapotocky, M, Khan, S, Fukuoka, K, Fonseca, A, McKeown, T, Sumerauer, D, Vicha, A, Grajkowska, WA, Trubicka, J, Li, KKW, Ng, H-K, Massimi, L, Lee, JY, Kim, S-K, Zelcer, S, Vasiljevic, A, Faure-Conter, C, Hauser, P, Lach, B, Van Veelen-Vincent, M-L, French, PJ, Van Meir, EG, Weiss, WA, Gupta, N, Pollack, IF, Hamilton, RL, Rao, AAN, Giannini, C, Rubin, JB, Moore, AS, Chambless, LB, Vibhakar, R, Ra, YS, Massimino, M, McLendon, RE, Wheeler, H, Zollo, M, Ferruci, V, Kumabe, T, Faria, CC, Sterba, J, Jung, S, Lopez-Aguilar, E, Mora, J, Carlotti, CG, Olson, JM, Leary, S, Cain, J, Krskova, L, Zamecnik, J, Hawkins, CE, Tabori, U, Huang, A, Bartels, U, Northcott, PA, Taylor, MD, Yip, S, Hansford, JR, Bouffet, E, Ramaswamy, V
العلاقة: pii: 100038; Nobre, L., Zapotocky, M., Khan, S., Fukuoka, K., Fonseca, A., McKeown, T., Sumerauer, D., Vicha, A., Grajkowska, W. A., Trubicka, J., Li, K. K. W., Ng, H. -K., Massimi, L., Lee, J. Y., Kim, S. -K., Zelcer, S., Vasiljevic, A., Faure-Conter, C., Hauser, P. ,. Ramaswamy, V. (2020). Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma. CELL REPORTS MEDICINE, 1 (3), https://doi.org/10.1016Test/j.xcrm.2020.100038.; http://hdl.handle.net/11343/245146Test
الإتاحة: https://doi.org/10.1016Test/j.xcrm.2020.100038
http://hdl.handle.net/11343/245146Test -
3دورية أكاديمية
المؤلفون: Sobocińska, A A, Niemira, M, Szałkowska, A, Wojtaś, B, Trubicka, J, Grajkowska, W, Matyja, E, Łastowska, M
المصدر: Neuro-Oncology ; volume 21, issue Supplement_3, page iii62-iii63 ; ISSN 1522-8517 1523-5866
مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology
الإتاحة: https://doi.org/10.1093/neuonc/noz126.225Test
http://academic.oup.com/neuro-oncology/article-pdf/21/Supplement_3/iii62/30128962/noz126.225.pdfTest -
4دورية أكاديمية
المؤلفون: Piekutowska-Abramczuk, D., Assouline, Z., Mataković, L., Feichtinger, R.G., Konarikova, E., Jurkiewicz, E., Stawiński, P., Gusic, M., Koller, A., Pollak, A., Gasperowicz, P., Trubicka, J., Ciara, E., Iwanicka-Pronicka, K., Rokicki, D., Hanein, S., Wortmann, S.B., Sperl, W., Rötig, A., Prokisch, H., Pronicka, E., Płoski, R., Barcia, G., Mayr, J.A.
المصدر: Am. J. Hum. Genet. 102, 460-467 (2018)
مصطلحات موضوعية: Complex I, Lactic Acidosis, Leigh Syndrome, Mitochondria, Nadh Dehydrogenase, Oxidative Phosphorylation, Respiratory Chain
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29429571; info:eu-repo/semantics/altIdentifier/wos/WOS:000426469600016; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
الإتاحة: https://doi.org/10.1016Test/j.ajhg.2018.01.008
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52941Test -
5دورية أكاديمية
المؤلفون: Sobocińska, A A, Trubicka, J, Karkucińska-Więckowska, A, Kaleta, M, Grajkowska, W, Matyja, E, Łastowska, M
المصدر: Neuro-Oncology ; volume 20, issue suppl_3, page iii272-iii272 ; ISSN 1522-8517 1523-5866
مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology
الإتاحة: https://doi.org/10.1093/neuonc/noy139.213Test
http://academic.oup.com/neuro-oncology/article-pdf/20/suppl_3/iii272/25792458/noy139.213.pdfTest -
6دورية أكاديمية
المؤلفون: Iwanicka-Pronicka K., Riley L., Roeben B., Rutsch F., Santer R., Schiff M., Seders M., Sequeira S., Sperl W., Unal O., Maas R.R., Kalkan Ucar S., Alhaddad B., AlSayed M., Al-Owain M.A., Al-Zaidan H.I., Balasubramaniam S., Baric I., Bubshait D.K., Burlina A., Christodoulou J., Chung W.K., Colombo R., Darin N., Freisinger P., Garcia Silva M.T., Grunewald S., Haack T.B., van Hasselt P.M., Hikmat O., Hörster F., Isohanni P., Ramzan K., Kovacs-Nagy R., Krumina Z., Martin-Hernandez E., Mayr J.A., McClean P., De Meirleir L., Naess K., Ngu L.H., Pajdowska M., Rahman S., Riordan G., Staufner C., Synofzik M., Taylor R.W., Trubicka J., Tsiakas K., Wassmer E., Wedatilake Y., Wolff T., Prokisch H., Morava E., Pronicka E., Wevers R.A., de Brouwer A.P., Wortmann S.B.
العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Annals of Neurology; https://hdl.handle.net/11454/25350Test; https://doi.org/10.1002/ana.25110Test; 82; 1004; 1015
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7دورية أكاديمية
المؤلفون: Pronicka, E, Ropacka-Lesiak, M, Trubicka, J, Pajdowska, M, Linke, M, Ostergaard, E, Saunders, C, Horsch, S, van Karnebeek, C, Yaplito-Lee, J, Distelmaier, F, Õunap, K, Rahman, S, Castelle, M, Kelleher, J, Baris, S, Iwanicka-Pronicka, K, Steward, CG, Ciara, E, Wortmann, SB, Additional individual contributors, .
المصدر: Journal of Inherited Metabolic Disease (2017) (In press).
مصطلحات موضوعية: 3-methylglutaconic aciduria, Cataracts, Hyperekplexia, Neutropenia, Prenatal movement disorder, Prenatal seizures
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1563776/1/s10545-017-0057-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1563776Test/
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8دورية أكاديمية
المؤلفون: Ciara, E., Rokicki, D., Halat, P., Karkucińska-Więckowska, A., Piekutowska-Abramczuk, D., Mayr, J., Trubicka, J., Szymańska-Dębińska, T., Pronicki, M., Pajdowska, M., Dudzińska, M., Giżewska, M., Krajewska-Walasek, M., Książyk, J., Sperl, W., Płoski, R., Pronicka, E.
المساهمون: CMHI, National Science Centre Harmonia 4, EU Structural Funds
المصدر: Molecular Genetics and Metabolism Reports ; volume 7, page 70-76 ; ISSN 2214-4269
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1016Test/j.ymgmr.2016.03.004
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426916300167?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: McKay JD, Truong T, Gaborieau V, Chabrier A, Chuang SC, Byrnes G, Zaridze D, Shangina O, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Holcatova I, Janout V, Foretova L, Lagiou P, Trichopoulos D, Benhamou S, Bouchardy C, Ahrens W, Talamini R, Barzan L, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Agudo A, Castellsagué X, Lowry R, Conway DI, McKinney PA, Healy CM, Toner ME, Znaor A, Curado MP, Koifman S, Menezes A, Wünsch Filho V, Neto JE, Garrote LF, Boccia S, Cadoni G, Arzani D, Olshan AF, Weissler MC, Funkhouser WK, Luo J, Lubiński J, Trubicka J, Lener M, Oszutowska D, Schwartz SM, Chen C, Fish S, Doody DR, Muscat JE, Lazarus P, Gallagher CJ, Chang SC, Zhang ZF, Wei Q, Sturgis EM, Wang LE, Franceschi S, Herrero R, Kelsey KT, McClean MD, Marsit CJ, Nelson HH, Romkes M, Buch S, Nukui T, Zhong S, Lacko M, Manni JJ, Peters WH, Hung RJ, McLaughlin J, Vatten L, Njølstad I, Goodman GE, Field JK, Liloglou T, Clavel Chapelon F, Palli D, Tumino R, Krogh V, Panico S, González CA, Quirós JR, Martínez C, Navarro C, Ardanaz E, Larrañaga N, Khaw KT, Key T, Bueno de Mesquita HB, Peeters PH, Trichopoulou A, Linseisen J, Boeing H, Hallmans G, Overvad K, Tjønneland A, Kumle M, Riboli E, Välk K, Voodern T, Metspalu A, Zelenika D, Boland A, Delepine M, Foglio M, Lechner D, Blanché H, Gut IG, Galan P, Heath S, Hashibe M, Hayes RB, Boffetta P, Lathrop M, Brennan P., MERLETTI, Franco, RICHIARDI, Lorenzo, CANOVA, CRISTINA, VINEIS, Paolo
المساهمون: McKay JD, Truong T, Gaborieau V, Chabrier A, Chuang SC, Byrnes G, Zaridze D, Shangina O, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Holcatova I, Janout V, Foretova L, Lagiou P, Trichopoulos D, Benhamou S, Bouchardy C, Ahrens W, Merletti F, Richiardi L, Talamini R, Barzan L, Kjaerheim K, Macfarlane GJ, Macfarlane TV, Simonato L, Canova C, Agudo A, Castellsagué X, Lowry R, Conway DI, McKinney PA, Healy CM, Toner ME, Znaor A, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Neto JE, Garrote LF, Boccia S, Cadoni G, Arzani D, Olshan AF, Weissler MC, Funkhouser WK, Luo J, Lubiński J, Trubicka J, Lener M, Oszutowska D, Schwartz SM, Chen C, Fish S, Doody DR, Muscat JE, Lazarus P, Gallagher CJ, Chang SC, Zhang ZF, Wei Q, Sturgis EM, Wang LE, Franceschi S, Herrero R, Kelsey KT, McClean MD, Marsit CJ, Nelson HH, Romkes M, Buch S, Nukui T, Zhong S, Lacko M, Manni JJ, Peters WH, Hung RJ, McLaughlin J, Vatten L, Njølstad I, Goodman GE, Field JK, Liloglou T, Vineis P, Clavel-Chapelon F, Palli D, Tumino R, Krogh V, Panico S, González CA, Quirós JR, Martínez C, Navarro C, Ardanaz E, Larrañaga N
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21437268; info:eu-repo/semantics/altIdentifier/wos/WOS:000288996600015; volume:7; issue:3; firstpage:e1001333; lastpage:e1001333; numberofpages:13; journal:PLOS GENETICS; http://hdl.handle.net/2318/85482Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79953761295; http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1001333Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1001333Test
http://hdl.handle.net/2318/85482Test
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1001333Test -
10دورية أكاديمية
المؤلفون: Purdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V, Jacobs KB, Chow WH, Zaridze D, Matveev V, Lubinski J, Trubicka J, Szeszenia Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Bucur A, Bencko V, Foretova L, Janout V, Boffetta P, Colt JS, Davis FG, Schwartz KL, Banks RE, Selby PJ, Harnden P, Berg CD, Hsing AW, Grubb RL 3rd, Boeing H, Vineis P, Clavel Chapelon F, Palli D, Tumino R, Krogh V, Duell EJ, Quirós JR, Sanchez MJ, Navarro C, Ardanaz E, Dorronsoro M, Khaw KT, Allen NE, Bueno de Mesquita HB, Peeters PH, Trichopoulos D, Linseisen J, Ljungberg B, Overvad K, Tjønneland A, Romieu I, Riboli E, Mukeria A, Shangina O, Stevens VL, Thun MJ, Diver WR, Gapstur SM, Pharoah PD, Easton DF, Albanes D, Weinstein SJ, Virtamo J, Vatten L, Hveem K, Njølstad I, Tell GS, Stoltenberg C, Kumar R, Koppova K, Cussenot O, Benhamou S, Oosterwijk E, Vermeulen SH, Aben KK, van der Marel SL, Ye Y, Wood CG, Pu X, Mazur AM, Boulygina ES, Chekanov NN, Foglio M, Lechner D, Gut I, Heath S, Blanche H, Hutchinson A, Thomas G, Wang Z, Yeager M, Fraumeni JF Jr, Skryabin KG, McKay JD, Rothman N, Chanock SJ, Lathrop M, Brennan P., PANICO, SALVATORE
المساهمون: Purdue, Mp, Johansson, M, Zelenika, D, Toro, Jr, Scelo, G, Moore, Le, Prokhortchouk, E, Wu, X, Kiemeney, La, Gaborieau, V, Jacobs, Kb, Chow, Wh, Zaridze, D, Matveev, V, Lubinski, J, Trubicka, J, Szeszenia Dabrowska, N, Lissowska, J, Rudnai, P, Fabianova, E, Bucur, A, Bencko, V, Foretova, L, Janout, V, Boffetta, P, Colt, J, Davis, Fg, Schwartz, Kl, Banks, Re, Selby, Pj, Harnden, P, Berg, Cd, Hsing, Aw, Grubb RL, 3rd, Boeing, H, Vineis, P, Clavel Chapelon, F, Palli, D, Tumino, R, Krogh, V, Panico, Salvatore, Duell, Ej, Quirós, Jr, Sanchez, Mj, Navarro, C, Ardanaz, E, Dorronsoro, M, Khaw, Kt, Allen, Ne, Bueno de Mesquita, Hb, Peeters, Ph, Trichopoulos, D, Linseisen, J, Ljungberg, B, Overvad, K, Tjønneland, A, Romieu, I, Riboli, E, Mukeria, A, Shangina, O, Stevens, Vl, Thun, Mj, Diver, Wr, Gapstur, Sm, Pharoah, Pd, Easton, Df, Albanes, D, Weinstein, Sj, Virtamo, J, Vatten, L, Hveem, K, Njølstad, I, Tell, G, Stoltenberg, C, Kumar, R, Koppova, K, Cussenot, O, Benhamou, S, Oosterwijk, E, Vermeulen, Sh, Aben, Kk, van der Marel, Sl, Ye, Y, Wood, Cg, Pu, X, Mazur, Am, Boulygina, E, Chekanov, Nn, Foglio, M, Lechner, D, Gut, I, Heath, S, Blanche, H, Hutchinson, A, Thomas, G, Wang, Z, Yeager, M, Fraumeni JF, Jr, Skryabin, Kg, Mckay, Jd
العلاقة: firstpage:60; lastpage:65; numberofpages:6; journal:NATURE GENETICS; http://hdl.handle.net/11588/428747Test