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1دورية 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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2دورية 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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3دورية أكاديمية
المؤلفون: De Vries P. J., Belousova E., Benedik M. P., Carter T., Cottin V., Curatolo P., D'Amato L., Beure D'Augeres G., Ferreira J. C., Feucht M., Fladrowski C., Hertzberg C., Jozwiak S., 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., Kingswood J. C., 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 O. V., Agranovich O., Levitina E. V., Maksimova Y. V., 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 L. T. K., Katanyuwong K., Sriudomkajorn S., Wilmshurst J., Segel R., Gilboa T., Tzadok M., Fattal-Valevski A., Papathanasopoulos P., Papavasiliou A. S., Giannakodimos S., Gatzonis S., Pavlou E., Tzoufi M., Vergeer A. M. H., Dhooghe M., Verhelst H., Roelens F., Nassogne M. C., Defresne P., De Waele L., Leroy P., Demonceau N., Legros B., Van Bogaert P., Ceulemans B., Dom L., Castelnau P., Martin A. D. S., Riquet A., Milh M., Cances C., Pedespan J. -M., Ville D., Roubertie A., Auvin S., Berquin P., Richelme C., Allaire C., Gueden S., Tich S. N. T., Godet B., Rojas M. L. R. F., Planas J. C., Bermejo A. M., Dura P. S., Aparicio S. R., Gonzalez M. J. M., Pison J. L., Barca M. O. B., Laso E. L., Luengo O. A., Rodriguez F. J. A., Dieguez I. M., Salas A. C., Carrera I. M., Salcedo E. M., Petri M. E. Y., Candela R. C., Da Conceicao Carrilho I., Vieira J. P., Da Silva Oliveira Monteiro J. P., De Oliveira Ferreira Leao M. J. S., Luis C. S. M. R., Mendonca C. P., Endziniene M., Strautmanis J., Talvik I., Canevini M. P., Gambardella A., Pruna D., Buono S., Fontana E., Bernardina B. D., Burloiu C., Cosma I. S. B., Vintan M. A., Popescu L., Zitterbart K., Payerova J., Bratsky L., Zilinska Z., Gruber-Sedlmayr U., Baumann M., Haberlandt E., Rostasy K., Pataraia E., Elmslie F., Johnston C. A., Crawford P., Uldall P., Dahlin M., Uvebrant P., Rask O., Bjoernvold M., Brodtkorb E., Sloerdahl A., Solhoff R., Jaatun M. S. G., Mandera M., Radzikowska E. J., 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, L. D'Amato, G. Beure D'Augere, J.C. Ferreira, M. Feucht, C. Fladrowski, C. Hertzberg, S. Jozwiak, 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, J.C. Kingswood, A.C. Jansen, N. Shinohara, 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.V. Belyaev, O. Agranovich, E.V. Levitina, Y.V. 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.T.K. Chomtho, K. Katanyuwong, S. Sriudomkajorn, J. Wilmshurst, R. Segel, T. Gilboa, M. Tzadok, A. Fattal-Valevski, P. Papathanasopoulo, A.S. Papavasiliou, S. Giannakodimo, S. Gatzoni, E. Pavlou, M. Tzoufi, A.M.H. Vergeer, M. Dhooghe, H. Verhelst, F. Roelen, M.C. Nassogne, P. Defresne
مصطلحات موضوعية: ASD, Cluster analysi, Factor analysi, Natural TAND cluster, Neuropsychiatric, Registry, TAND, TOSCA, Tuberous sclerosis complex, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32873244; info:eu-repo/semantics/altIdentifier/wos/WOS:000566155000001; volume:12; issue:1; firstpage:1; lastpage:13; numberofpages:13; journal:JOURNAL OF NEURODEVELOPMENTAL DISORDERS; http://hdl.handle.net/2434/784997Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090181194
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4دورية 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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5دورية 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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6دورية أكاديمية
المؤلفون: Lal, D., Reinthaler, E. M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A. . E., Schwarz, G., Riesch, E., Ikram, M. A., Van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinböck, H., Gruber sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G., Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B. A., Palotie, A., Ruppert, A. K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G. M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., STRIANO, PASQUALE, Møller, R. S., Nabbout, R., Balling, R., Baulac, S., Bianchi, A., La Neve, A., MINETTI, CARLO, Giuseppe, C.
المساهمون: Lal, D., Reinthaler, E. M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A. . E., Schwarz, G., Riesch, E., Ikram, M. A., Van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinböck, H., Gruber sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G., Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B. A., Palotie, A., Ruppert, A. K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G. M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., Striano, Pasquale, Møller, R. S., Nabbout, R., Balling, R., Baulac, S., Bianchi, A., La Neve, A., Minetti, Carlo, Giuseppe, C.
مصطلحات موضوعية: Amino Acid Substitution, Case-Control Studie, Epilepsy, Female, Human, Male, NAV1.1 Voltage-Gated Sodium Channel, Risk Factor, Syndrome, Mutation, Missense, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), Medicine (all)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26990884; info:eu-repo/semantics/altIdentifier/wos/WOS:000372582800030; volume:11; firstpage:e426; lastpage:e452; journal:PLOS ONE; http://hdl.handle.net/11567/841175Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84962195598
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7دورية أكاديمية
المؤلفون: Haberlandt, E., Ensslen, M., Gruber-Sedlmayr, U., Plecko, B., Brunner-Krainz, M., Schimmel, Mareike, Schubert-Bast, S., Neirich, U., Philippi, H., Kurleman, G., Tardieu, M., Wohlrab, G., Borggraefe, I., Rostásy, K.
مصطلحات موضوعية: ddc:610
وصف الملف: application/pdf
العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111693Test; urn:nbn:de:bvb:384-opus4-1116938; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1116938Test; https://doi.org/10.1016/j.ejpn.2016.11.016Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/111693/111693.pdfTest
الإتاحة: https://doi.org/10.1016/j.ejpn.2016.11.016Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111693Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1116938Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/111693/111693.pdfTest -
8دورية أكاديمية
المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.
المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.
مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668
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9مؤتمر
المؤلفون: Zobel, J., Plecko, B., Friedrich, M., Gruber-Sedlmayr, U., Rauter, L., Brunner-Krainz, M., Schwerin-Nagel, A., Kortschak, A., Steiner, K., Pilch, H., Raissakis, M., Köstl, G., Spiegl, B., Seebacher, H., Schreiner, E., Blatterer, J., Speicher, M., Verheyen, S.
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899
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10دورية أكاديمية
المؤلفون: Reinthaler, E.M., Lal, D., Lebon, S., Hildebrand, M.S., Dahl, H.H., Regan, B.M., Feucht, M., Steinböck, H., Neophytou, B., Ronen, G.M., Roche, L., Gruber-Sedlmayr, U., Geldner, J., Haberlandt, E., Hoffmann, P., Herms, S., Gieger, C., Waldenberger, M., Franke, A., Wittig, M., Schoch, S., Becker, A.J., Hahn, A., Männik, K., Toliat, M.R., Winterer, G., Lerche, H., Nürnberg, P., Mefford, H., Scheffer, I.E., Berkovic, S.F., Beckmann, J.S., Sander, T., Jacquemont, S., Reymond, A., Zimprich, F., Neubauer, B.A.
المساهمون: 16p11.2 European Consortium, EPICURE Consortium, EuroEPINOMICS Consortium, Reinthaler, EM., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, GM., Roche, L., Lal, D., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B., Mörzinger, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Møller, RS., Klitten, LL., Hjalgrim, H., Campus, K., Helbig, I., Muhle, H., Ostertag, P., von Spiczak, S., Stephani, U., Trucks, H., Elger, CE., Kleefuß-Lie, AA., Kunz, WS., Surges, R., Gaus, V., Janz, D., Schmitz, B., Rosenow, F., Klein, KM., Reif, PS., Oertel, WH., Hamer, HM., Becker, F., Weber, Y., Koeleman, BP., de Kovel, C., Lindhout, D., Ameil, A., Andrieux, J., Bouquillon, S., Boute, O., Cordier, MP., Cuisset, JM., Cuvellier, JC., David, A., de Vries, B., Delrue, MA., Doco-Fenzy, M., Fernandez, BA., Heron, D., Keren, B., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Mignot, C., Minet, JC., Moerman, A., Morice-Picard, F., Mucciolo, M., Ounap, K., Pasquier, L., Petit, F., Ragona, F., Rajcan-Separovic, E., Renieri, A., Rieubland, C., Sanlaville, D., Sarrazin, E., Shen, Y., van Haelst, M., Vulto-van Silfhout, A.
المصدر: Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24939913; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_30D0F629E19F7; https://serval.unil.ch/notice/serval:BIB_30D0F629E19FTest; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_30D0F629E19F.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_30D0F629E19F7Test
الإتاحة: https://doi.org/10.1093/hmg/ddu306Test
https://serval.unil.ch/notice/serval:BIB_30D0F629E19FTest
https://serval.unil.ch/resource/serval:BIB_30D0F629E19F.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_30D0F629E19F7Test
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