المؤلفون: Wang, TY, Hoekzema, K, Vecchio, D, Wu, HD, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, XB, Ou, JJ, Li, HH, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, PF, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE

المصدر: Nature communications. 11(1):5398

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145046061Test

المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedláček, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Acampado, J, Ace, AJ, Amatya, A, Astrovskaya, I, Bashar, A, Brooks, E, Butler, ME, Cartner, LA, Chin, W, Chung, WK, Daniels, AM, Feliciano, P, Fleisch, C, Ganesan, S, Jensen, W, Lash, AE, Marini, R, Myers, VJ, O’Connor, E, Rigby, C, Robertson, BE, Shah, N, Shah, S, Singer, E, Snyder, LAG, Stephens, AN, Tjernagel, J, Vernoia, BM, Volfovsky, N, White, LC, Hsieh, A, Shen, Y, Zhou, X, Turner, TN, Bahl, E, Thomas, TR

المصدر: urn:ISSN:2041-1723 ; Nature Communications, 11, 1, 4932

مصطلحات موضوعية: Genetics, Prevention, 2 Aetiology, 2.1 Biological and endogenous factors, Basic Helix-Loop-Helix Transcription Factors, CCCTC-Binding Factor, Case-Control Studies, Cohort Studies, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterogeneous-Nuclear Ribonucleoprotein U, High-Throughput Nucleotide Sequencing, Humans, KCNQ3 Potassium Channel, Male, Mutation, Neurodevelopmental Disorders, RNA-Binding Proteins, Repressor Proteins, Transcription Factors, SPARK Consortium

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_75278Test; https://unsworks.unsw.edu.au/bitstreams/7d3ed439-4288-434c-84e8-89e0d7222a5a/downloadTest; https://unsworks.unsw.edu.au/bitstreams/8ca75888-4ff0-4880-8b29-5c2d5db1b8fa/downloadTest; https://doi.org/10.1038/s41467-020-18723-yTest

الإتاحة: https://doi.org/10.1038/s41467-020-18723-yTest
http://hdl.handle.net/1959.4/unsworks_75278Test
https://unsworks.unsw.edu.au/bitstreams/7d3ed439-4288-434c-84e8-89e0d7222a5a/downloadTest
https://unsworks.unsw.edu.au/bitstreams/8ca75888-4ff0-4880-8b29-5c2d5db1b8fa/downloadTest

المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE

العلاقة: pii: 10.1038/s41467-020-19289-5; Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M. ,. Eichler, E. E. (2020). Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020). NATURE COMMUNICATIONS, 11 (1), https://doi.org/10.1038/s41467-020-19289-5Test.; http://hdl.handle.net/11343/251729Test

الإتاحة: https://doi.org/10.1038/s41467-020-19289-5Test
http://hdl.handle.net/11343/251729Test

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: Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, EnricoAlibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi G, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi R, Tiberti A, Trabetti E, Zoccante L, Zuddas A.

المساهمون: Michele Filosi , Tony Kam-Thong , Laurent Essioux , Pierandrea Muglia , Elisabetta Trabetti , Will Spooren , Bertram Müller-Myshok , Italian Autism Network, Enrico Domenici, Antonia Parmeggiani, Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, Enricoalibrio, G, Anchisi, L, Andruccioli, M, Benvenuto, A, Battistella, Pa, Boscaini, F, Bravaccio, C, Ceppi, E, Cosentino, D, Curatolo, P, Da Ros, L, Bernardina, Bd, De Giacomo, A, Di Vita, G, Domenici, E, Elia, M, Gitti, F, Grittani, S, Lamanna, Al, Mani, E, Manzi, B, Margari, L, Masi, G, Molteni, M, Muglia, P, Nardocci, F, Pascotto, A, Parmeggiani, A, Pignatti, Pf, Piroddi, T, Prandini, P, Ratti, E, Rizzini, P, Russo, S, Scifo, R, Tancredi, R, Tiberti, A, Trabetti, E, Zoccante, L, Zuddas, A.

المصدر: Translational Psychiatry, Vol 10, Iss 1, Pp 1-12 (2020)
Translational Psychiatry

مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, autism spectrum disorders, Biology, Molecular neuroscience, Peripheral blood mononuclear cell, Article, lcsh:RC321-571, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, transcriptomic signatures, mental disorders, medicine, Humans, Allele, Sibling, Autistic Disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Genetics, Autism, genetics, neuroscience, Blood Cells, Siblings, medicine.disease, Gene expression profiling, Psychiatry and Mental health, 030104 developmental biology, Asperger syndrome, Autism spectrum disorder, Autism, 030217 neurology & neurosurgery, Biomarkers

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7865a2e657d766cda43b0851e4844c19Test
http://link.springer.com/article/10.1038/s41398-020-0778-xTest

المؤلفون: Specchio, N, Pietrafusa, N, Doccini, V, Trivisano, M, Darra, F, Ragona, F, Cossu, A, Spolverato, S, Battaglia, D, Quintiliani, M, Gambardella, ML, Rosati, A, Mei, D, Granata, T, Bernardina, BD, Vigevano, F, Guerrini, R

المساهمون: Specchio, N, Pietrafusa, N, Doccini, V, Trivisano, M, Darra, F, Ragona, F, Cossu, A, Spolverato, S, Battaglia, D, Quintiliani, M, Gambardella, Ml, Rosati, A, Mei, D, Granata, T, Bernardina, Bd, Vigevano, F, Guerrini, R

مصطلحات موضوعية: childhood epilepsy, convulsive seizures, Dravet syndrome, fenfluramine, SCN1A

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32945537; info:eu-repo/semantics/altIdentifier/wos/WOS:000570222900001; firstpage:1; lastpage:10; numberofpages:10; journal:EPILEPSIA; http://hdl.handle.net/11562/1029067Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091034817

الإتاحة: https://doi.org/10.1111/epi.16690Test
http://hdl.handle.net/11562/1029067Test

المؤلفون: Germinario EA, Arcieri R, Bonati M, Zuddas A, Masi G, Vella S, Chiarotti F, Panei P, Italian ADHD Regional Reference Centers, Collaborators: Bobba B, Veneselli E, Baldizzone MJ, De Nobili G, Marcelli M, Torrioli MG, Vicari S, Bartolomeo S, Curatolo P, Fabrizi A, Donfrancesco R, Parisi R, Suglia D, Nicoletta M, Stagi P, Murru F, Tullini A, Chiodo S, Pirisi A, Morbin E, Milantoni L, Bernardina BD, Maschietto D, Mambelli C, Condini A, Brighenti M, Miottello P, Tombolato R, Rizzo L, Gemma A, Musumeci S, Vanadia F, Costanza G, Ragusa D, Calamoneri F, Mazzone D, Giaccherini F, Carrozzi M, Cremaschi S, Ottolini A, Arisi D, Tiberti A, Terragni ML, Morosini P, Meraviglia C, Lenti C, Pezzani M, Balottin U, Piccinelli P, Chiarenza G, Brunati E, Montrasio V, Molteni M, Rinaldi F, Rossi G, Segala R, Guccione F, Bailo P, Besana D, Rolando M, Jarre L, Ragazzo F, Tondi M, Casara G, Arcangeli D, Stermann I, Giannelli C, Voltolin G, Legge MP, Sechi E, Gennaro E, Campolo G, La Vitola A, Mingolla A, Spina A, Margari L, Massagli A, Bravaccio C, Granato R, Grimaldi G, Mazzotta G, Cioni G, Pincherle M, Cesare C, Stoppioni V, Rosolino T., BASSI, Bianca

المساهمون: Germinario EA, Arcieri R, Bonati M, Zuddas A, Masi G, Vella S, Chiarotti F, Panei P, Italian ADHD Regional Reference Centers, Collaborators: Bobba B, Veneselli E, Baldizzone MJ, De Nobili G, Marcelli M, Torrioli MG, Vicari S, Bartolomeo S, Curatolo P, Fabrizi A, Donfrancesco R, Parisi R, Suglia D, Nicoletta M, Stagi P, Murru F, Tullini A, Chiodo S, Pirisi A, Morbin E, Milantoni L, Bernardina BD, Maschietto D, Mambelli C, Condini A, Brighenti M, Miottello P, Tombolato R, Rizzo L, Gemma A, Musumeci S, Vanadia F, Costanza G, Ragusa D, Calamoneri F, Mazzone D, Giaccherini F, Carrozzi M, Cremaschi S, Ottolini A, Arisi D, Tiberti A, Terragni ML, Morosini P, Meraviglia C, Lenti C, Pezzani M, Balottin U, Piccinelli P, Chiarenza G, Brunati E, Montrasio V, Molteni M, Rinaldi F, Rossi G, Segala R, Guccione F, Bailo P, Besana D, Bassi B, Rolando M, Jarre L, Ragazzo F, Zuddas A, Tondi M, Casara G, Arcangeli D, Stermann I, Giannelli C, Voltolin G, Legge MP, Sechi E, Gennaro E, Campolo G, La Vitola A, Mingolla A, Spina A, Margari L, Massagli A, Bravaccio C, Granato R, Grimaldi G, Mazzotta G, Masi G, Cioni G, Pincherle M, Cesare C, Stoppioni V, Rosolino T.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24024538; info:eu-repo/semantics/altIdentifier/wos/WOS:000324463300003; volume:23; issue:7; firstpage:440; lastpage:447; numberofpages:8; journal:JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY; http://hdl.handle.net/2318/146096Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884507817

الإتاحة: https://doi.org/10.1089/cap.2012.0086Test
http://hdl.handle.net/2318/146096Test

المؤلفون: Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi G, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi R, Tiberti A, Trabetti E, Zoccante L, Zuddas A.

المساهمون: Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio, G, Anchisi, L, Andruccioli, M, Benvenuto, A, Battistella, Pa, Boscaini, F, Bravaccio, C, Ceppi, E, Cosentino, D, Curatolo, P, Da Ros, L, Bernardina, Bd, De Giacomo, A, Di Vita, G, Domenici, E, Elia, M, Gitti, F, Grittani, S, Lamanna, Al, Mani, E, Manzi, B, Margari, L, Masi, G, Molteni, M, Muglia, P, Nardocci, F, Pascotto, A, Parmeggiani, A, Pignatti, Pf, Piroddi, T, Prandini, P, Ratti, E, Rizzini, P, Russo, S, Scifo, R, Tancredi, R, Tiberti, A, Trabetti, E, Zoccante, L, Zuddas, A.

مصطلحات موضوعية: Autism Spectrum disorder, Biomarker, Biorepository, Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30463616; info:eu-repo/semantics/altIdentifier/wos/WOS:000450890200001; volume:18; issue:1; firstpage:369; journal:BMC PSYCHIATRY; http://hdl.handle.net/11586/230388Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85056923026

الإتاحة: https://doi.org/10.1186/s12888-018-1937-yTest
http://hdl.handle.net/11586/230388Test

المؤلفون: Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, 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, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, 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, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, 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: Epilepsia Open

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Neurology, Disease, tuberous sclerosis complex, 030105 genetics & heredity, registry, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Intellectual disability, medicine, Seizure control, TOSCA, business.industry, epilepsy, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, 3. Good health, medicine.anatomical_structure, Cohort, Full‐length Original Research, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0230368dd4d2223442bb9ce86b019b2fTest
http://hdl.handle.net/2108/212732Test

المؤلفون: Raviglione, F, Douzgou, S, Scala, M, Mingarelli, A, D'Arrigo, Stefano, Freri, Elena, Darra ,F, Giglio, S, Bonaglia, MC, Pantaleoni, Chiara, Mastrangelo, M, Epifanio, R, Elia, M, Saletti, Veronica, Morlino, Sara, De Liso, P, Pavaine, J, Spaccini, L, Cattaneo, E, Gardella, E, Møller, RS, Marchese, F, Colonna, C, Gandioli, C, Gobbi, G, Ram, D, Palumbo, O, Carella, M, Germano, M, Tonduti, D, De Angelis, D, Caputo, D, Bergonzini, P, Novara, F, Zuffardi, O, Verrotti, A, Orsini, A, Bonuccelli, A, De Muto, MC, Trivisano, M, Vigevano, F, Granata, Tiziana, Bernardina, BD, Tranchina, A, Striano, P

مصطلحات موضوعية: Epilepsy, Seizures, EEG, Electro-clinical phenotype, Therapy, MEF2C, ADGRV1

العلاقة: https://zenodo.org/communities/bestaTest; https://zenodo.org/record/6200696Test; https://doi.org/10.5281/zenodo.6200696Test; oai:zenodo.org:6200696

الإتاحة: https://doi.org/10.5281/zenodo.6200696Test
https://doi.org/10.1016/j.seizure.2021.03.025Test
https://doi.org/10.5281/zenodo.6200695Test
https://zenodo.org/record/6200696Test