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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137244001Test

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

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

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

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

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

الإتاحة: https://doi.org/10.1002/ana.25110Test
https://hdl.handle.net/11454/25350Test

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1563776/1/s10545-017-0057-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1563776Test/

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

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

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

الإتاحة: http://hdl.handle.net/11588/428747Test