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1دورية أكاديمية
المؤلفون: Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM
المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 28, 2, 668-697
مصطلحات موضوعية: Neurosciences, Genetics, Pediatric, Clinical Research, Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_85769Test; https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest; https://doi.org/10.1038/s41380-022-01852-9Test
الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
http://hdl.handle.net/1959.4/unsworks_85769Test
https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest -
2دورية أكاديمية
المؤلفون: Knupp, KG, Scheffer, IE, Ceulemans, B, Sullivan, J, Nickels, KC, Lagae, L, Guerrini, R, Zuberi, SM, Nabbout, R, Riney, K, Agarwal, A, Lock, M, Dai, D, Farfel, GM, Galer, BS, Gammaitoni, AR, Polega, S, Davis, R, Gil-Nagel, A
العلاقة: Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., Agarwal, A., Lock, M., Dai, D., Farfel, G. M., Galer, B. S., Gammaitoni, A. R., Polega, S., Davis, R. & Gil-Nagel, A. (2023). Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. EPILEPSIA, 64 (1), pp.139-151. https://doi.org/10.1111/epi.17431Test.; http://hdl.handle.net/11343/335957Test
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3دورية أكاديمية
المؤلفون: Palmer, E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F., Chedrawi, A., Hashem, M., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Kalscheuer, V.
المصدر: Molecular Psychiatry
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-000B-73BB-1Test; http://hdl.handle.net/21.11116/0000-000C-6D10-8Test
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4دورية أكاديمية
المؤلفون: Knupp, KG, Scheffer, IE, Ceulemans, B, Sullivan, JE, Nickels, KC, Lagae, L, Guerrini, R, Zuberi, SM, Nabbout, R, Riney, K, Shore, S, Agarwal, A, Lock, M, Farfel, GM, Galer, BS, Gammaitoni, AR, Davis, R, Gil-Nagel, A
العلاقة: pii: 2791918; Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J. E., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., Shore, S., Agarwal, A., Lock, M., Farfel, G. M., Galer, B. S., Gammaitoni, A. R., Davis, R. & Gil-Nagel, A. (2022). Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome A Randomized Clinical Trial. JAMA NEUROLOGY, 79 (6), pp.554-564. https://doi.org/10.1001/jamaneurol.2022.0829Test.; http://hdl.handle.net/11343/307934Test
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5دورية أكاديمية
المؤلفون: Christensen, MB, Levy, AM, Mohammadi, NA, Niceta, M, Kaiyrzhanov, R, Dentici, ML, Al Alam, C, Alesi, V, Benoit, V, Bhatia, KP, Bierhals, T, Boßelmann, CM, Buratti, J, Callewaert, B, Ceulemans, B, Charles, P, De Wachter, M, Dehghani, M, D'haenens, E, Doco-Fenzy, M, Geßner, M, Gobert, C, Guliyeva, U, Haack, TB, Hammer, TB, Heinrich, T, Hempel, M, Herget, T, Hoffmann, U, Horvath, J, Houlden, H, Keren, B, Kresge, C, Kumps, C, Lederer, D, Lermine, A, Magrinelli, F, Maroofian, R, Vahidi Mehrjardi, MY, Moudi, M, Müller, AJ, Oostra, AJ, Pletcher, BA, Ros-Pardo, D, Samarasekera, S, Tartaglia, M, Van Schil, K, Vogt, J, Wassmer, E, Winkelmann, J, Zaki, MS, Zech, M, Lerche, H, Radio, FC, Gomez-Puertas, P, Møller, RS, Tümer, Z
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.ms-excel
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest; Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; et al. Christensen, MB; Levy, AM; Mohammadi, NA; Niceta, M; Kaiyrzhanov, R; Dentici, ML; Al Alam, C; Alesi, V; Benoit, V; Bhatia, KP; Bierhals, T; Boßelmann, CM; Buratti, J; Callewaert, B; Ceulemans, B; Charles, P; De Wachter, M; Dehghani, M; D'haenens, E; Doco-Fenzy, M; Geßner, M; Gobert, C; Guliyeva, U; Haack, TB; Hammer, TB; Heinrich, T; Hempel, M; Herget, T; Hoffmann, U; Horvath, J; Houlden, H; Keren, B; Kresge, C; Kumps, C; Lederer, D; Lermine, A; Magrinelli, F; Maroofian, R; Vahidi Mehrjardi, MY; Moudi, M; Müller, AJ; Oostra, AJ; Pletcher, BA; Ros-Pardo, D; Samarasekera, S; Tartaglia, M; Van Schil, K; Vogt, J; Wassmer, E; Winkelmann, J; Zaki, MS; Zech, M; Lerche, H; Radio, FC; Gomez-Puertas, P; Møller, RS; Tümer, Z (2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clin Genet, 102 (2). pp. 98-109. ISSN 1399-0004 https://doi.org/10.1111/cge.14165Test SGUL Authors: Maroofian, Reza
الإتاحة: https://doi.org/10.1111/cge.14165Test
https://openaccess.sgul.ac.uk/id/eprint/114577Test/
https://openaccess.sgul.ac.uk/id/eprint/114577/1/Clinical%20Genetics%20-%202022%20-%20Christensen%20-%20Biallelic%20variants%20in%20ZNF142%20lead%20to%20a%20syndromic%20neurodevelopmental%20disorder.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114577/7/cge14165-sup-0001-tables1.docxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/9/cge14165-sup-0002-tables2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114577/10/cge14165-sup-0003-tables3.xlsxTest -
6دورية 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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7دورية 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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8دورية أكاديمية
المؤلفون: Beijer, D, Agnew, T, Rack, JGM, Prokhorova, E, Deconinck, T, Ceulemans, B, Peric, S, Milic Rasic, V, De Jonghe, P, Ahel, I, Baets, J
العلاقة: https://ora.ox.ac.uk/objects/uuid:542e69dc-3e41-461b-aa38-0f8be0976b2eTest; https://doi.org/10.26508/lsa.202101057Test
الإتاحة: https://doi.org/10.26508/lsa.202101057Test
https://ora.ox.ac.uk/objects/uuid:542e69dc-3e41-461b-aa38-0f8be0976b2eTest -
9دورية أكاديمية
المؤلفون: Cross, JH, Galer, BS, Gil-Nagel, A, Devinsky, O, Ceulemans, B, Lagae, L, Schoonjans, A-S, Donner, E, Wirrell, E, Kothare, S, Agarwal, A, Lock, M, Gammaitoni, AR
المصدر: Seizure , 93 pp. 154-159. (2021)
مصطلحات موضوعية: Dravet syndrome, Fenfluramine, Mortality, SUDEP
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139512/1/1-s2.0-S1059131121003526-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139512Test/
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10دورية أكاديمية
المؤلفون: Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., Maystadt, I., Tunca, Y., Blaumeiser, B., Ceulemans, B., COURTENS, Winnie, Debray, François-Guillaume, Destree, A., Devriendt, K., Jansen, A., Keymolen, K., Lederer, D., Loeys, B., Meuwissen, M., Moortgat, S., Mortier, G., Nassogne, M.-C., Sekhara, T., Van Coster, R., Van Den Ende, J., Van der Aa, N., Van Esch, H., Vanakker, O., Verhelst, H., Vilain, C., Weckhuysen, S., Passemard, S., Verloes, A., Aeby, A., Deconinck, N., Van Bogaert, P., Pirson, I., Abramowicz, M.
المصدر: Molecular Genetics and Genomic Medicine, 9 (9) (2021)
مصطلحات موضوعية: brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, ASPM protein, human, cell cycle protein, nerve protein, WDR62 protein, child, complication, female, gene frequency, genetic heterogeneity, genetics, genotype, incidence, male, microcephaly, pathology, phenotype, Cell Cycle Proteins, Humans, Nerve Tissue Proteins, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
العلاقة: urn:issn:2324-9269; https://orbi.uliege.be/handle/2268/312113Test; info:hdl:2268/312113; https://orbi.uliege.be/bitstream/2268/312113/1/Phenotypes%20and%20genotypes%20in%20non-consanguineous%20and%20consanguineous%20primary%20microcephaly%20-%20high%20incidence%20of%20epilepsy.pdfTest; scopus-id:2-s2.0-85112521549; info:pmid:34402213
الإتاحة: https://doi.org/10.1002/mgg3.1768Test
https://orbi.uliege.be/handle/2268/312113Test
https://orbi.uliege.be/bitstream/2268/312113/1/Phenotypes%20and%20genotypes%20in%20non-consanguineous%20and%20consanguineous%20primary%20microcephaly%20-%20high%20incidence%20of%20epilepsy.pdfTest
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