المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C.M., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/22833/1/22833oa.pdfTest; http://edoc.mdc-berlin.de/22833/2/22833suppl.zipTest; Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum. Schmidt, J. and Dreha-Kulaczewski, S. and Zafeiriou, M.P. and Schreiber, M.K. and Wilken, B. and Funke, R. and Neuhofer, C.M. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Biskup, S. and Li, Y. and Zimmermann, W.H. and Kaulfuß, S. and Yigit, G. and Wollnik, B. Frontiers in Cell and Developmental Biology 10 : 1025332. 16 November 2022

الإتاحة: https://doi.org/10.3389/fcell.2022.1025332Test
http://edoc.mdc-berlin.de/22833Test/
https://edoc.mdc-berlin.de/22833Test/
http://edoc.mdc-berlin.de/22833/1/22833oa.pdfTest
http://edoc.mdc-berlin.de/22833/2/22833suppl.zipTest

المؤلفون: Schmidt, J., Schreiber, G., Altmüller, J., Thiele, H., Nürnberg, P., Li, Y., Kaulfuß, S., Funke, R., Wilken, B., Yigit, G., Wollnik, B.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/21002/1/21002oa.pdfTest; Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Schmidt, J. and Schreiber, G. and Altmüller, J. and Thiele, H. and Nürnberg, P. and Li, Y. and Kaulfuß, S. and Funke, R. and Wilken, B. and Yigit, G. and Wollnik, B. European Journal of Human Genetics 30 (2): 211-218. February 2022

الإتاحة: https://doi.org/10.1038/s41431-021-00967-xTest
http://edoc.mdc-berlin.de/21002Test/
https://edoc.mdc-berlin.de/21002Test/
http://edoc.mdc-berlin.de/21002/1/21002oa.pdfTest

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142187489Test

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141251970Test

المؤلفون: Zhang, DJ, Lang, SG, Wilken, B, Einspieler, C, Neul, JL, Bolte, S, Holzinger, D, Freilinger, M, Poustka, L, Sigafoos, J, Marschik, PB

المصدر: Research in developmental disabilities. 138:104515

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:152655164Test

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

الإتاحة: https://doi.org/10.1186/s11689-020-09327-0Test
http://hdl.handle.net/2434/784997Test

المؤلفون: Kirkham, FJ, Vigevano, F, Raspall-Chaure, M, Wilken, B, Lee, D, Le Reun, C, Werner-Kiechle, T, Lagae, L

المصدر: Epilepsy and Behavior , 102 , Article 106340. (2020)

مصطلحات موضوعية: Epilepsy, Prolonged acute convulsive seizures, Rescue medication, Health-related quality of life

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10086577/1/1-s2.0-S1525505019300186-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10086577Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10086577/1/1-s2.0-S1525505019300186-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10086577Test/

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10080432Test/

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

الإتاحة: https://doi.org/10.1186/s13023-018-0901-8Test
http://hdl.handle.net/2434/662324Test

المؤلفون: Kremser, G., Rasinkangas, R., Tanskanen, P., Wilken, B., Gloeckler, G.

المصدر: eISSN: 1432-0576

وصف الملف: application/pdf

العلاقة: https://angeo.copernicus.org/articles/12/152/1994Test/

الإتاحة: https://doi.org/10.1007/s00585-994-0152-yTest
https://angeo.copernicus.org/articles/12/152/1994Test/