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1دورية أكاديمية
المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ
المصدر: Orphanet journal of rare diseases. 15(1):3
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Marques, R, Belousoye, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, Shinohara, N, LIorie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, YW, Zou, LP, Xu, KF, Zhang, YS, Luan, GM, Zhang, YQ, Wang, Y, Jin, ML, Ye, DW, Liao, WP, Zhou, LM, Liu, J, Liao, JX, Yan, B, Deng, YC, Jiang, L, Liu, ZS, Huang, SP, Li, H, Kim, K, Chen, PL, Lee, HF, Tsai, JD, Chi, CS, Huang, CC, Riney, AK, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMM, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, AD, Riquet, A, Milh, M, Cances, C, Pedespan, JM, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Tich, SNT, Godet, B, Rojas, MLRF, Planas, JC, Bermejo, AM, Dura, PS, Aparicio, SR, Gonzalez, MJM, Pison, JL, Barca, MOB, Laso, EL, Luengo, OA, Rodriguez, FJA, Dieguez, IM, Salas, AC, Carrera, IM, Salcedo, EM, Petri, MEY, Candela, RC, Carrilho, ID, Vieira, JP, Monteiro, JPDO, Leao, MJSDF, Luis, CSMR, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Laberlandt, EI, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahi, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
المصدر: Frontiers in neurology. 10:1144
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, YW, Zou, LP, Xu, KF, Zhang, YS, Luan, GM, Zhang, YQ, Wang, Y, Jin, ML, Ye, DW, Liao, WP, Zhou, LM, Liu, J, Liao, JX, Yan, B, Deng, YC, Jiang, L, Liu, ZS, Huang, SP, Li, H, Kim, K, Chen, PL, Lee, HF, Tsai, JD, Chi, CS, Huang, CC, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatz, S, Pavlou, E, Tzoufi, M, Vergeer, AMH, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, AD, Riquet, A, Milh, M, Cances, C, Pedespan, JM, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Tich, SNT, Godet, B, Rojas, MLRF, Planas, JC, Bermejo, AM, Dura, PS, Aparicio, SR, Gonzalez, MJM, Pison, JL, Barca, MOB, Laso, EL, Luengo, OA, Rodriguez, FJA, Dieguez, IM, Salas, AC, Carrera, IM, Salcedo, EM, Petri, MEY, Candela, RC, Carrilho, ID, Vieira, JP, Monteiro, JPDO, Leao, MJSDF, Luis, CSMR, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Haberland, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahl, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
المصدر: Frontiers in neurology. 10:705
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Heard, JM, Bellettato, C, Lingen, C, Scarpa, M, Debray, FG, Nassogne, MC, van Coster, R, De Meirleir, L, Eyskens, F, Morava, E, Baric, I, Kozich, V, Lund, AM, Germain, D, Belmatoug, N, Guffon, N, Labrune, P, Gouya, L, De Lonlay, P, Schiff, M, Dobbelaere, D, Chabrol, B, Ploeckinger, U, Das, AM, Spiekerkoetter, U, Rutsch, F, Mohnike, K, Hahn, A, Kolker, S, Ullrich, K, Hennermann, J, Balogh, I, Bembi, B, Donati, MA, Gasperini, S, Parenti, G, Salviati, A, Vici, CD, Di Rocco, M, Cefalo, G, Burlina, A, Ceccarini, G, Federico, A, Van der Ploeg, A, Rubio-Gozalbo, ME, Van Spronsen, F, Visser, G, Bosch, A, Tangeraas, T, Sanderberg, S, Kiec-Wilk, B, Gaspar, AMSM, Martins, E, Silva, EMFR, Matos, LMDFD, Azevedo, O, Tansek, MZ, Couce-Pico, ML, Cazorla, AG, Azuara, LAE, Del Toro-Riera, M, Silva, MTG, Lajic, S, Darin, N, Deegan, P, Vijay, S, Chronopolou, E, Jones, S, Chakrapani, A, Hiwot, T
المصدر: Orphanet journal of rare diseases. 14(1):119
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Rossi, A, Hoogeveen, IJ, Lubout, CMA, de Boer, F, Fokkert-Wilts, MJ, Rodenburg, IL, van Dam, E, Grünert, SC, Martinelli, D, Scarpa, M, Dekker, H, te Boekhorst, ST, van Spronsen, FJ, Derks, TGJ, de Baere, L, Bellettato, C, Bosch, AM, Sallago, JB, Botto, LD, Brunner-Krainz, M, Carøe, C, Casswall, T, Contreras Pulido, EL, Couce, ML, Dessein, AF, Donati, MA, Eyskens, F, Moura De Souza, CF, Fraile, PQ, Fuchs, SA, Gasperini, S, Haas, D, Hernández, EM, Hochuli, M, Hugon, A, Karall, D, Koeberl, D, Labrune, P, Lajic, S, van Lingen, C, Maiorana, A, Mention, K, Moenig, I, Mohnike, K, Montanari, C, Nassogne, MC, Parini, R, Rahman, S, Reyes, M, Schwantje, M, Skouma, A, Strisciuglio, P, Thiel, M, Weinstein, D, Ziagaki, A
المصدر: Journal of Inherited Metabolic Disease , 44 (5) pp. 1124-1135. (2021)
مصطلحات موضوعية: eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10149887Test/
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6دورية أكاديمية
المؤلفون: Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMH, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Sylvie, NTT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Dahlin, M, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahl, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R
المصدر: Frontiers in Neurology , 10 , Article 821. (2019)
مصطلحات موضوعية: mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10080432Test/
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7دورية أكاديمية
المؤلفون: Repp, BM, Mastantuono, E, Alston, CL, Schiff, M, Haack, TB, Rotig, A, Ardissone, A, Lombes, A, Catarino, CB, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Ding, WH, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, HJM, Wittig, I, Scurr, I, Coo, IFM, Moroni, I, Smet, J, Mayr, JA, Dai, LF, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, RJ, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, TM, Herberg, U, Ahting, U, Sperl, W, Nassogne, MC, Ling, H, Fang, F, Freisinger, P
المصدر: Repp , BM , Mastantuono , E , Alston , CL , Schiff , M , Haack , TB , Rotig , A , Ardissone , A , Lombes , A , Catarino , CB , Diodato , D , Schottmann , G , Poulton , J , Burlina , A , Jonckheere , A , Munnich , A , Rolinski , B , Ghezzi , D , Rokicki , D , Wellesley , D , Martinelli , D , Ding , WH , Lamantea , E , Ostergaard , E , Pronicka , E , Pierre , G ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/s13023-018-0784-8Test
https://pure.eur.nl/en/publications/94f2998b-e84c-425a-87cb-448bfb043c27Test
https://pure.eur.nl/ws/files/47936400/REPUB_109529-OA.pdfTest
http://hdl.handle.net/1765/109529Test -
8دورية أكاديمية
المؤلفون: de Vries P. J., Belousova E., Benedik M. P., Carter T., Cottin V., Curatolo P., Dahlin M., D'Amato L., d'Augeres G. B., Ferreira J. C., Feucht M., Fladrowski C., Hertzberg C., Jozwiak S., Kingswood J. C., Lawson J. A., Macaya A., Marques R., Nabbout R., O'Callaghan F., Qin J., Sander V., Sauter M., Shah S., Takahashi Y., Touraine R., Youroukos S., Zonnenberg B., Jansen A. C. Shinohara N, Horie S, Kubota M, Tohyama J, Imai K, Kaneda M, Kaneko H, Uchida Y, Kirino T, Endo S, Inoue Y, Uruno K, Serdaroglu A, Yapici Z, Anlar B, Altunbasak S, Lvova O, Belyaev OV, Agranovich O, Levitina EV, Maksimova YV, Karas A, Jiang Y, Zou L, Xu K, Zhang Y, Luan G, Wang Y, Jin M, Ye D, Liao W, Zhou L, Liu J, Liao J, Yan B, Deng Y, Jiang L, Liu Z, Huang S, Li H, Kim K, Chen PL, Lee HF, Tsai JD, Chi CS, Huang CC, Riney K, Yates D, Kwan P, Likasitwattanakul S, Nabangchang C, Chomtho LTK, Katanyuwong K, Sriudomkajorn S, Wilmshurst J, Segel R, Gilboa T, Tzadok M, Fattal-Valevski A, Papathanasopoulos P, Papavasiliou AS, Giannakodimos S, Gatzonis S, Pavlou E, Tzoufi M, Vergeer AMH, Dhooghe M, Verhelst H, Roelens F, Nassogne MC, Defresne P, De Waele L, Leroy P, Demonceau N, Legros B, Van Bogaert P, Ceulemans B, Dom L, Castelnau P, De Saint Martin A, Riquet A, Milh M, Cances C, Pedespan JM, Ville D, Roubertie A, Auvin S, Berquin P, Richelme C, Allaire C, Gueden S, Tich SNT, Godet B, Rojas MLRF, Planas JC, Bermejo AM, Dura PS, Aparicio SR, Gonzalez MJM, Pison JL, Barca MOB, Laso EL, Luengo OA, Rodriguez FJA, Dieguez IM, Salas AC, Carrera IM, Salcedo EM, Petri MEY, Candela RC, da Conceicao Carrilho I, Vieira JP, da Silva Oliveira Monteiro JP, Santos de Oliveira Ferreira Leao MJ, Luis CSMR, Mendonca CP, Endziniene M, Strautmanis J, Talvik I, Canevini MP, Gambardella A, Pruna D, Buono S, Fontana E, Bernardina BD, Burloiu C, Cosma ISB, Vintan MA, Popescu L, Zitterbart K, Payerova J, Bratsky L, Zilinska Z, Gruber-Sedlmayr U, Baumann M, Haberlandt E, Rostasy K, Pataraia E, Elmslie F, Johnston CA, Crawford P, Uldall P, Uvebrant P, Rask O, Bjoernvold M, Brodtkorb E, Sloerdahl A, Solhoff R, Jaatun MSG, Mandera M, Radzikowska EJ, Wysocki M, Fischereder M, Kurlemann G, Wilken B, Wiemer-Kruel A, Budde K, Marquard K, Knuf M, Hahn A, Hartmann H, Merkenschlager A, Trollmann R
المساهمون: P.J. de Vrie, E. Belousova, M.P. Benedik, T. Carter, V. Cottin, P. Curatolo, M. Dahlin, L. D'Amato, G.B. D'Augere, J.C. Ferreira, M. Feucht, C. Fladrowski, C. Hertzberg, S. Jozwiak, J.C. Kingswood, J.A. Lawson, A. Macaya, R. Marque, R. Nabbout, F. O'Callaghan, J. Qin, V. Sander, M. Sauter, S. Shah, Y. Takahashi, R. Touraine, S. Yourouko, B. Zonnenberg, S.N. Jansen A. C., S. Horie, M. Kubota, J. Tohyama, K. Imai, M. Kaneda, H. Kaneko, Y. Uchida, T. Kirino, S. Endo, Y. Inoue, K. Uruno, A. Serdaroglu, Z. Yapici, B. Anlar, S. Altunbasak, O. Lvova, O. Belyaev, O. Agranovich, E. Levitina, Y. Maksimova, A. Kara, Y. Jiang, L. Zou, K. Xu, Y. Zhang, G. Luan, Y. Wang, M. Jin, D. Ye, W. Liao, L. Zhou, J. Liu, J. Liao, B. Yan, Y. Deng, L. Jiang, Z. Liu, S. Huang, H. Li, K. Kim, P. Chen, H. Lee, J. Tsai, C. Chi, C. Huang, K. Riney, D. Yate, P. Kwan, S. Likasitwattanakul, C. Nabangchang, L. Chomtho, K. Katanyuwong, S. Sriudomkajorn, J. Wilmshurst, R. Segel, T. Gilboa, M. Tzadok, A. Fattal-Valevski, P. Papathanasopoulo, A. Papavasiliou, S. Giannakodimo, S. Gatzoni, E. Pavlou, M. Tzoufi, A. Vergeer, M. Dhooghe, H. Verhelst, F. Roelen, M. Nassogne, P. Defresne
مصطلحات موضوعية: TOSCA, TSC-associated neuropsychiatric disorder, Tuberous sclerosis complex, Adolescent, Adult, Anxiety Disorder, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Child, Preschool, Depressive Disorder, Female, Genotype, Human, Intellectual Disability, Male, Mutation, Neuropsychological Test, Tuberous Sclerosi, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Young Adult, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30201051; info:eu-repo/semantics/altIdentifier/wos/WOS:000444266400001; volume:13; issue:1; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/662324Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055867151
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9دورية أكاديمية
المؤلفون: Çağlayan, Ao, Blaser, S, Chitayat, D, Warwick, L, Freckmann, Ml, Altunoglu, U, Kayserili, H, De, Meirleir, Davies, Jh, Marin-Valencia, I, Markmiller, S, Shaw, Tl, Widjaja, A, Mande, R, Musaev, D, Guemez-Gamboa, A, Gregor, A, Dikoglu, E, Rosti, Ro, Heckman, Ld, Silhavy, Jl, Scott, E, Akizu, N, Rosti, B, Schlachetzki, Z, Van, Nostrand, Sathe, S, Grainger, S, Zaki, Ms, Eggens, Vr, Lardelli, Rm, Schaffer, Ae, Per, Hüseyin, Gleeson, Jg, Lykke-Andersen, J, Baas, F, Yeo, Gw, Bennett, Ej, Nassogne, Mc, Valente, Em, Gunel, M, Gabriel, Sb, Bova, Sm, Spaccini, L, Traver, D, Chi, Nc, Dobyns, Wb, Foulds, N, Ogata, K, Shiina, M, Saitsu, H, Muramatsu, K, Matsumoto, N, Manchester, D, Aldinger, Ka, Kibaek, M, Christesen, Ht, Fagerberg, C, Bilguvar, K
العلاقة: 794afd61-8a73-4521-9a7c-0388d3347c22; https://avesis.erciyes.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest
الإتاحة: https://doi.org/10.1038/ng.3762Test
https://avesis.erciyes.edu.tr/publication/details/794afd61-8a73-4521-9a7c-0388d3347c22/oaiTest -
10دورية أكاديمية
المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.
المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J
مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test