-
1دورية أكاديمية
المؤلفون: Martins, S, Yahia, A, Costa, IPD, Siddig, HE, Abubaker, R, Koko, M, Corral-Juan, M, Matilla-Duenas, A, Brice, A, Durr, A, Leguern, E, Ranum, LPW, Amorim, A, Elsayed, LEO, Stevanin, G, Sequeiros, J
المصدر: Human genetics. 142(12):1747-1754
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2تقرير
المؤلفون: Maminiaina, Of, Koko, M., Rajaonarison, J. J., Razafindrakoto, R., Ravaomanana, J., Shannon, A. D.
مصطلحات موضوعية: Quantitative Biology - Other Quantitative Biology
الوصول الحر: http://arxiv.org/abs/2403.13853Test
-
3دورية أكاديمية
المؤلفون: Yahia, A, Hamed, AAA, Mohamed, IN, Elseed, MA, Salih, MA, El-Sadig, S, Siddig, HE, Nasreldien, AEM, Abdullah, MA, Elzubair, M, Omer, FY, Bakhiet, AM, Abubaker, R, Abozar, F, Adil, R, Emad, S, Musallam, MA, Eltazi, IZM, Omer, Z, Malik, H, Mohamed, MOE, Elhassan, AA, Mohamed, EOE, Ahmed, AKMA, Ahmed, EAA, Eltaraifee, E, Hussein, BK, Abd Allah, ASI, Salah, L, Nimir, M, Elseed, OMT, Elhassan, TEA, Elbashier, A, Alfadul, ESA, Fadul, M, Ali, KF, Taha, SOMA, Bushara, EE, Amin, M, Koko, M, Ibrahim, ME, Ahmed, AE, Elsayed, LEO, Stevanin, G
المصدر: European journal of human genetics : EJHG. 31(6)
مصطلحات موضوعية: Medicin och hälsovetenskap
-
4دورية أكاديمية
المؤلفون: Koko M., Motelow J. E., Stanley K. E., Bobbili D. R., Dhindsa R. S., May P., Alldredge B. K., Allen A. S., Altmuller J., Amrom D., Andermann E., Auce P., Avbersek A., Baulac S., Bautista J. F., Becker F., Bellows S. T., Berghuis B., Berkovic S. F., Bluvstein J., Boro A., Bridgers J., Burgess R., Caglayan H., Cascino G. D., Cavalleri G. L., Chung S. -K., Cieuta-Walti C., Cloutier V., Consalvo D., Cossette P., Crumrine P., Delanty N., Depondt C., Desbiens R., Devinsky O., Dlugos D., Epstein M. P., Everett K., Fiol M., Fountain N. B., Francis B., French J., Freyer C., Friedman D., Gambardella A., Geller E. B., Girard S., Glauser T., Glynn S., Goldstein D. B., Gravel M., Haas K., Haut S. R., Heinzen E. L., Helbig I., Hildebrand M. S., Johnson M. R., Jorgensen A., Joshi S., Kanner A., Kirsch H. E., Klein K. M., Knowlton R. C., Koeleman B. P. C., Kossoff E. H., Krause R., Krenn M., Kunz W. S., Kuzniecky R., Langley S. R., LeGuern E., Lehesjoki A. -E., Lerche H., Leu C., Lortie A., Lowenstein D. H., Marson A. G., Mebane C., Mefford H. C., Meloche C., Moreau C., Motika P. V., Muhle H., Moller R. S., Nabbout R., Nguyen D. K., Nikanorova M., Novotny E. J., Nurnberg P., Ottman R., O'Brien T. J., Paolicchi J. M., Parent J. M., Park K., Peter S., Petrou S., Petrovski S., Pickrell W. O., Poduri A., Radtke R. A., Rees M. I., Regan B. M., Ren Z., Sadleir L. G., Sander J. W., Sander T., Scheffer I. E., Schubert J., Shellhaas R. A., Sherr E. H., Shih J. J., Shinnar S., Sills G. J., Singh R. K., Siren A., Sirven J., Sisodiya S. M., Smith M. C., Sonsma A. C. M., Striano P., Sullivan J., Thio L. L., Thomas R. H., Venkat A., Vining E. P. G., Von Allmen G. K., Wang Q., Weber Y. G., Weckhuysen S., Weisenberg J. L., Widdess-Walsh P., Winawer M. R., Wolking S., Zara F., Zimprich F.
المساهمون: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A.
مصطلحات موضوعية: GABRG2, GABAA receptor, GGE, familial epilepsy, sporadic epilepsy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35032048; info:eu-repo/semantics/altIdentifier/wos/WOS:000742638200001; volume:63; firstpage:723; lastpage:735; numberofpages:13; journal:EPILEPSIA; http://hdl.handle.net/11567/1080622Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122822705
-
5دورية أكاديمية
المؤلفون: Koko, M., Elseed, M.A., Mohammed, I.N., Hamed, A.A., Abd Allah, A.S.I., Yahia, A., Siddig, R.A., Altmüller, J., Toliat, M.R., Elmahdi, E.O., Amin, M., Ahmed, E. A., Eltazi, I.Z.M., Elmugadam, F.A., Abdelgadir, W.A., Eltaraifee, E., Ibrahim, M.O.M., Ali, N.M.H., Malik, H.M., Babai, A.M., Bakhit, Y.H., Nürnberg, P., Ibrahim, M.E., Salih, M.A., Schubert, J., Elsayed, L.E.O., Lerche, H.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
العلاقة: Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy. Koko, M. and Elseed, M.A. and Mohammed, I.N. and Hamed, A.A. and Abd Allah, A.S.I. and Yahia, A. and Siddig, R.A. and Altmüller, J. and Toliat, M.R. and Elmahdi, E.O. and Amin, M. and Ahmed, E. A. and Eltazi, I.Z.M. and Elmugadam, F.A. and Abdelgadir, W.A. and Eltaraifee, E. and Ibrahim, M.O.M. and Ali, N.M.H. and Malik, H.M. and Babai, A.M. and Bakhit, Y.H. and Nürnberg, P. and Ibrahim, M.E. and Salih, M.A. and Schubert, J. and Elsayed, L.E.O. and Lerche, H. European Journal of Human Genetics 5 February 2024 (In Press)
الإتاحة: https://doi.org/10.1038/s41431-024-01541-xTest
http://edoc.mdc-berlin.de/24090Test/
https://edoc.mdc-berlin.de/24090Test/ -
6دورية أكاديمية
المؤلفون: Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P
العلاقة: Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S. & May, P. (2022). Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. EPILEPSIA, 63 (3), pp.723-735. https://doi.org/10.1111/epi.17166Test.; http://hdl.handle.net/11343/301467Test
-
7دورية أكاديمية
المؤلفون: Krueger, J, Schubert, J, Kegele, J, Labalme, A, Mao, M, Heighway, J, Seebohm, G, Yan, P, Koko, M, Aslan-Kara, K, Caglayan, H, Steinhoff, BJ, Weber, YG, Keo-Kosal, P, Berkovic, SF, Hildebrand, MS, Petrou, S, Krause, R, May, P, Lesca, G, Maljevic, S, Lerche, H
العلاقة: pii: S2352-3964(22)00426-1; Krueger, J., Schubert, J., Kegele, J., Labalme, A., Mao, M., Heighway, J., Seebohm, G., Yan, P., Koko, M., Aslan-Kara, K., Caglayan, H., Steinhoff, B. J., Weber, Y. G., Keo-Kosal, P., Berkovic, S. F., Hildebrand, M. S., Petrou, S., Krause, R., May, P. ,. Lerche, H. (2022). Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies. EBIOMEDICINE, 84, https://doi.org/10.1016/j.ebiom.2022.104244Test.; http://hdl.handle.net/11343/322494Test
-
8دورية أكاديمية
المؤلفون: Koko M., Krause R., Sander T., Bobbili D. R., Nothnagel M., May P., Lerche H., Epi25 Collaborative, Bisulli F., Tinuper P., Pippucci T.
المساهمون: Koko M., Krause R., Sander T., Bobbili D.R., Nothnagel M., May P., Lerche H., Epi25 Collaborative, Bisulli F., Tinuper P., Pippucci T.
مصطلحات موضوعية: Burden analysi, Epilepsy, Exome sequencing, Gene-set, Ultra-rare variant, Case-Control Studie, Epilepsies, Partial, Generalized, Exome, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Human, Male, Whole Exome Sequencing
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34571366; info:eu-repo/semantics/altIdentifier/wos/WOS:000703696900002; volume:72; firstpage:103588; lastpage:103588; numberofpages:13; journal:EBIOMEDICINE; http://hdl.handle.net/11585/854161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115643859; https://www.sciencedirect.com/science/article/pii/S2352396421003819?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.ebiom.2021.103588Test
http://hdl.handle.net/11585/854161Test
https://www.sciencedirect.com/science/article/pii/S2352396421003819?via=ihubTest -
9
المؤلفون: Celli, R., Striano, P., Citraro, R., Di Menna, L., Cannella, M., Imbriglio, T., Koko, M., De Sarro, G., Monn, J. A., Battaglia, G., van Luijtelaar, G., Nicoletti, F., Russo, E., Leo, A., Palotie, A., Folkhalsan, A. -E. L., Ruppert, A. -K., Lal, D., Thiele, H., Altmuller, J., Jabbari, K., Nurnberg, P., Sander, T., Siren, A., Becker, F., Lerche, H., Weber, Y., Koeleman, B., Caglayan, H., Hjalgrim, H., Moller, R., Muhle, H., Helbig, I., Everett, K., May, P., Krause, R., Balling, R., Nabbout, R., Zara, F., Scala, M., Iacomino, M., Scudieri, P., Bocciardi, R., Balagura, G., Minetti, C., Riva, A., Vari, M. S., Amadori, E., Perinelli, M., Verrotti, A., Baulac, S., Kunz, W.
المصدر: Current Neuropharmacology, 21, 1, pp. 105-118
Current Neuropharmacology, 21, 105-118مصطلحات موضوعية: gaba, Pharmacology, cortico-thalamo-cortical network, Action, intention, and motor control, human genetics, glutamate, General Medicine, absence epilepsy, eeg, mglu3 receptors, Psychiatry and Mental health, Neurology, Pharmacology (medical), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26dc020640e044603ac5e137e144da1Test
https://hdl.handle.net/2066/249931Test -
10دورية أكاديمية
المؤلفون: Koko, M, Krause, R, Sander, T, Bobbili, DR, Nothnagel, M, May, P, Lerche, H
العلاقة: pii: S2352-3964(21)00381-9; Koko, M., Krause, R., Sander, T., Bobbili, D. R., Nothnagel, M., May, P. & Lerche, H. (2021). Distinct gene-set burden patterns underlie common generalized and focal epilepsies. EBIOMEDICINE, 72, https://doi.org/10.1016/j.ebiom.2021.103588Test.; http://hdl.handle.net/11343/307075Test
النص الكامل