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1Academic Journal
المؤلفون: D. G. A. Kasteleijn Nolst Trenité, L. Volkers, E. Strengman, H. M. Schippers, W. Perquin, G. Jan de Haan, A. O. Gkountidi, R. van’t Slot, S. F. de Graaf, B. Jocic Jakubi, G. Capovilla, A. Covanis, PARISI, Pasquale, P. Veggiotti, BRINCIOTTI, Mario, G. Incorpora, M. Piccioli, L. Cantonetti, S. F. Berkovic, I. E. Scheffer, E. H. Brilstra, A. C. M. Sonsma, A. J. Bader, C. G. F. de Kovel, B. P. C. Koeleman
المساهمون: D. G. A., Kasteleijn Nolst Trenité, L., Volker, E., Strengman, H. M., Schipper, W., Perquin, G., Jan de Haan, A. O., Gkountidi, R., van’t Slot, S. F., de Graaf, B., Jocic Jakubi, G., Capovilla, A., Covani, Parisi, Pasquale, P., Veggiotti, Brinciotti, Mario, G., Incorpora, M., Piccioli, L., Cantonetti, S. F., Berkovic, I. E., Scheffer, E. H., Brilstra, A. C. M., Sonsma, A. J., Bader, C. G. F., de Kovel, B. P. C., Koeleman
مصطلحات موضوعية: epilepsy, SCNM1 mutation, orofacial myoclonu, PPR, photosensitivity
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/26076849; info:eu-repo/semantics/altIdentifier/wos/WOS:000357767800014; volume:29; firstpage:90; lastpage:96; numberofpages:7; journal:SEIZURE; http://hdl.handle.net/11573/780033; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930995127; http://www.seizure-journal.com/
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2Academic Journal
المؤلفون: V. Conti, A. Carabalona, E. Pallesi Pocachard, E. Parrini, R. J. Leventer, E. Buhler, G. McGillivray, F. J. Michel, P. Striano, D. Mei, F. Watrin, S. Lise, A. T. Pagnamenta, J. C. Taylor, U. Kini, J. Clayton Smith, W. B. Dobyns, I. E. Scheffer, S. P. Robertson, S. F. Berkovic, A. Represa, D. A. Keays, C. Cardoso, R. Guerrini, NOVARA, FRANCESCA, ZUFFARDI, ORSETTA
المساهمون: V., Conti, A., Carabalona, E., Pallesi Pocachard, E., Parrini, R. J., Leventer, E., Buhler, G., Mcgillivray, F. J., Michel, P., Striano, D., Mei, F., Watrin, S., Lise, A. T., Pagnamenta, J. C., Taylor, U., Kini, J., Clayton Smith, Novara, Francesca, Zuffardi, Orsetta, W. B., Dobyn, I. E., Scheffer, S. P., Robertson, S. F., Berkovic, A., Represa, D. A., Keay, C., Cardoso, R., Guerrini
مصطلحات موضوعية: Abnormalitie, Multiple, genetics/pathology/physiopathology, Adolescent, Adult, Animals, Brain, abnormalities/pathology/physiopathology, Child, Chromosome Deletion, Chromosome, Human, Pair 6, genetics, Cohort Studies, Developmental Disabilitie, Epilepsy, Exome, Female, Haploinsufficiency, Humans, Infant, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Group II, Mutation, Periventricular Nodular Heterotopia, Rats, Rat
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/24056535; info:eu-repo/semantics/altIdentifier/wos/WOS:000326291800020; volume:136; issue:11; firstpage:3378; lastpage:3394; numberofpages:17; journal:BRAIN; http://hdl.handle.net/11571/986411; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-84890545399; http://dx.doi.org/10.1093/brain/awt249
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3Academic Journal
المؤلفون: L. M. Dibbens, B. d. Vries, S. Donatello, S. E. Heron, B. L. Hodgson, S. Chintawar, D. E. Crompton, J. N. Hughes, S. T. Bellows, K. M. Klein, P. M. C, M. A. Corbett, A. E. Gardner, S. Kivity, X. Iona, B. M. Regan, C. M. Weller, D. Crimmins, T. J. O'Brien, R. Guerrero López, J. C. Mulley, F. Dubeau, P. Cossette, P. Q. Thomas, J. Gecz, J. Serratosa, O. F. Brouwer, F. Andermann, E. Andermann, A. M. J, M. Pandolfo, S. F. Berkovic, I. E. Scheffer, LICCHETTA, LAURA, BISULLI, FRANCESCA
المساهمون: L. M. Dibben, B. d. Vrie, S. Donatello, S. E. Heron, B. L. Hodgson, S. Chintawar, D. E. Crompton, J. N. Hughe, S. T. Bellow, K. M. Klein, P. M. C, M. A. Corbett, A. E. Gardner, S. Kivity, X. Iona, B. M. Regan, C. M. Weller, D. Crimmin, T. J. O'Brien, R. Guerrero-López, J. C. Mulley, F. Dubeau, L. Licchetta, F. Bisulli, P. Cossette, P. Q. Thoma, J. Gecz, J. Serratosa, O. F. Brouwer, F. Andermann, E. Andermann, A. M. J, M. Pandolfo, S. F. Berkovic, I. E. Scheffer
مصطلحات موضوعية: Adolescent, Adult, Animals, Case-Control Studies, Cell, Cultured, Child, Preschool, Cohort Studies, Computational Biology, Epilepsie, Partial, diagnosis/genetics, Exome, genetics, Female, Fluorescent Antibody Technique, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Guanine Nucleotide Exchange Factor, Humans, Infant, Male, Mice, Middle Aged, Mutation, Neuron, cytology/metabolism, Pedigree
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/23542697; info:eu-repo/semantics/altIdentifier/wos/WOS:000318158200019; volume:45; firstpage:546; lastpage:551; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/11585/174499; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84878352545; http://dx.doi.org/10.1038/ng.2599
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4Academic Journal
المؤلفون: Epicure Consortium, C. Leu, C. G. F. De Kovel, F. Zara, P. Striano, M. Pezzella, A. Robbiano, A. Bianchi, F. Bisulli, A. Coppola, F. Beccaria, D. K. N. Trenite, D. Lindhout, V. Gaus, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, A. A. Kleefuss Lie, K. Hallman, W. S. Kunz, C. E. Elger, H. Muhle, U. Stephani, R. S. Møller, H. Hjalgrim, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. E. Lehesjoki, A. Siren, R. Nabbout, S. Baulac, E. Leguern, J. M. Serratosa, F. Rosenow, M. Feucht, I. Unterberger, A. Covanis, A. Suls, S. Weckhuysen, R. Kaneva, H. Caglayan, D. Turkdogan, B. Baykan, N. Bebek, U. Ozbek, A. Hempelmann, H. Schulz, F. Ruschendorf, H. Trucks, P. Nurnberg, G. Avanzini, B. P. C. Koeleman, T. Sander, GIALLONARDO, Anna Teresa
المساهمون: Epicure, Consortium, C., Leu, C. G. F., De Kovel, F., Zara, P., Striano, M., Pezzella, A., Robbiano, A., Bianchi, F., Bisulli, A., Coppola, Giallonardo, Anna Teresa, F., Beccaria, D. K. N., Trenite, D., Lindhout, V., Gau, B., Schmitz, D., Janz, Y. G., Weber, F., Becker, H., Lerche, A. A., Kleefuss Lie, K., Hallman, W. S., Kunz, C. E., Elger, H., Muhle, U., Stephani, R. S., Møller, H., Hjalgrim, S., Mullen, I. E., Scheffer, S. F., Berkovic, K. V., Everett, M. R., Gardiner, C., Marini, R., Guerrini, A. E., Lehesjoki, A., Siren, R., Nabbout, S., Baulac, E., Leguern, J. M., Serratosa, F., Rosenow, M., Feucht, I., Unterberger, A., Covani, A., Sul, S., Weckhuysen, R., Kaneva, H., Caglayan, D., Turkdogan, B., Baykan, N., Bebek, U., Ozbek, A., Hempelmann, H., Schulz, F., Ruschendorf, H., Truck, P., Nurnberg, G., Avanzini, B. P. C., Koeleman, T., Sander
مصطلحات موضوعية: absence seizure, linkage analysi, genetic generalized epilepsy, myoclonic seizure, complex inheritance
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/22242659; info:eu-repo/semantics/altIdentifier/wos/WOS:000299546100017; volume:53; issue:2; firstpage:308; lastpage:318; numberofpages:11; journal:EPILEPSIA; http://hdl.handle.net/11573/442818; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84856357672
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5Academic Journal
المؤلفون: E. P. I. C. U. R. E. Consortium, E. M. I. Net Consortium, M. Steffens, C. Leu, A. Ruppert, F. Zara, P. Striano, A. Robbiano, G. Capovilla, A. Gambardella, A. Bianchi, A. L. Neve, G. Crichiutti, C. G. F, D. K. Trenité, G. d. Haan, D. Lindhout, V. Gaus, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, B. J. Steinhoff, A. A. Kleefuß Lie, W. S. Kunz, R. Surges, C. E. Elger, H. Muhle, S. v. Spiczak, P. Ostertag, I. Helbig, U. Stephani, R. S. Møller, H. Hjalgrim, L. M. Dibbens, S. Bellows, K. Oliver, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. Lehesjoki, A. Siren, M. Guipponi, A. Malafosse, P. Thomas, R. Nabbout, S. Baulac, E. Leguern, R. Guerrero, J. M. Serratosa, P. S. Reif, F. Rosenow, M. Mörzinger, M. Feucht, F. Zimprich, C. Kapser, C. J. Schankin, A. Suls, K. Smets, P. D. Jonghe, A. Jordanova, H. Caglayan, Z. Yapici, D. A. Yalcin, B. Baykan, N. Bebek, U. Ozbek, C. Gieger, H. Wichmann, T. Balschun, D. Ellinghaus, A. Franke, C. Meesters, T. Becker, T. F. Wienker, A. Hempelmann, H. Schulz, F. Rüschendorf, M. Leber, S. M. Pauck, H. Trucks, M. R. Toliat, P. Nürnberg, G. Avanzini, B. P. C, T. Sander, BISULLI, FRANCESCA, TINUPER, PAOLO
المساهمون: E. P. I. C. U. R. E. Consortium, E. M. I.Net Consortium, M. Steffen, C. Leu, A. Ruppert, F. Zara, P. Striano, A. Robbiano, G. Capovilla, P. Tinuper, A. Gambardella, A. Bianchi, A. L. Neve, G. Crichiutti, C. G. F, D. K. Trenité, G. d. Haan, D. Lindhout, V. Gau, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, B. J. Steinhoff, A. A. Kleefuß-Lie, W. S. Kunz, R. Surge, C. E. Elger, H. Muhle, S. v. Spiczak, P. Ostertag, I. Helbig, U. Stephani, R. S. Møller, H. Hjalgrim, L. M. Dibben, S. Bellow, K. Oliver, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. Lehesjoki, A. Siren, M. Guipponi, A. Malafosse, P. Thoma, R. Nabbout, S. Baulac, E. Leguern, R. Guerrero, J. M. Serratosa, P. S. Reif, F. Rosenow, M. Mörzinger, M. Feucht, F. Zimprich, C. Kapser, C. J. Schankin, A. Sul, K. Smet, P. D. Jonghe, A. Jordanova, H. Caglayan, Z. Yapici, D. A. Yalcin, B. Baykan, N. Bebek, U. Ozbek, C. Gieger, H. Wichmann, T. Balschun, D. Ellinghau, A. Franke, C. Meester, T. Becker, T. F. Wienker, A. Hempelmann, H. Schulz, F. Rüschendorf, M. Leber, S. M. Pauck, H. Truck, M. R. Toliat, P. Nürnberg, G. Avanzini, B. P. C, T. Sander
مصطلحات موضوعية: Alleles, Epilepsy, Absence, genetics, Generalized, Genetic Predisposition to Disease, Genome-Wide Association Study, Homeodomain Protein, Humans, Myoclonic Epilepsy, Juvenile, NAV1.1 Voltage-Gated Sodium Channel, Protein-Serine-Threonine Kinase, Receptor, Muscarinic M3, Repressor Protein
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/22949513; info:eu-repo/semantics/altIdentifier/wos/WOS:000311965600011; volume:21; issue:24; firstpage:5359; lastpage:5372; numberofpages:13; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11585/145290; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84870312067; http://dx.doi.org/.1093/hmg/dds373
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6Academic Journal
المؤلفون: T. Arsov, K. R. Smith, J. Damiano, S. Franceschetti, L. Canafoglia, C. J. Bromhead, E. Andermann, D. F. Vears, P. Cossette, S. Rajagopalan, A. McDougall, V. Sofia, M. Farrell, U. Aguglia, A. Zini, M. Morbin, S. Mullen, F. Andermann, S. E. Mole, M. Bahlo, S. F. Berkovic, MELETTI, Stefano
المساهمون: T., Arsov, K. R., Smith, J., Damiano, S., Franceschetti, L., Canafoglia, C. J., Bromhead, E., Andermann, D. F., Vear, P., Cossette, S., Rajagopalan, A., Mcdougall, V., Sofia, M., Farrell, U., Aguglia, A., Zini, Meletti, Stefano, M., Morbin, S., Mullen, F., Andermann, S. E., Mole, M., Bahlo, S. F., Berkovic
مصطلحات موضوعية: Kufs disease, CLN6, progressive myoclonus epilepsy
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/21549341; info:eu-repo/semantics/altIdentifier/wos/WOS:000290832100004; volume:88(5); firstpage:566; lastpage:573; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11380/653655; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955806792
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7Academic Journal
المؤلفون: C. G. F, D. Pinto, U. Tauer, S. Lorenz, H. Muhle, C. Leu, B. A. Neubauer, A. Hempelmann, P. M. C, I. E. Scheffer, S. F. Berkovic, G. Rudolf, A. Siren, B. Baykan, T. Sander, D. Lindhout, D. G. Kasteleijn Nolst, U. Stephani, B. P. C., STRIANO, PASQUALE
المساهمون: C. G., F., D., Pinto, U., Tauer, S., Lorenz, H., Muhle, C., Leu, B. A., Neubauer, A., Hempelmann, P. M., C., I. E., Scheffer, S. F., Berkovic, G., Rudolf, Striano, Pasquale, A., Siren, B., Baykan, T., Sander, D., Lindhout, D. G., Kasteleijn Nolst, U., Stephani, B. P., C.
مصطلحات موضوعية: Chromosome Mapping, methods, Chromosome, Human, Pair 16, genetics, Pair 5, Pair 8, Epilepsy, Reflex, Female, Genetic Linkage, Genetic Predisposition to Disease, Genome, Humans, Male
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/20153606; info:eu-repo/semantics/altIdentifier/wos/WOS:000277872900015; volume:89; firstpage:286; lastpage:294; numberofpages:8; journal:EPILEPSY RESEARCH; http://hdl.handle.net/11567/314877; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951296253; http://dx.doi.org/10.1016/j.eplepsyres.2010.01.013
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8Academic Journal
المؤلفون: LABATE A, M. R. NEWTON, G. M. VERNON, S. F. BERKOVIC
المساهمون: Labate, A, M. R., Newton, G. M., Vernon, S. F., Berkovic
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000226868000015; firstpage:42; lastpage:43; numberofpages:2; journal:MEDICAL JOURNAL OF AUSTRALIA; http://hdl.handle.net/11570/3231539; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-11844264823
الاتاحة: http://hdl.handle.net/11570/3231539
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9Academic Journal
المؤلفون: LABATE A, R. S. BRIELLMANN, A. S. HARVEY, S. F. BERKOVIC, P. FEDERICO, R. M. KALNINS, G. C. FABINYI, G. D. JACKSON
المساهمون: Labate, A, R. S., Briellmann, A. S., Harvey, S. F., Berkovic, P., Federico, R. M., Kalnin, G. C., Fabinyi, G. D., Jackson
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000222331000007; firstpage:107; lastpage:114; numberofpages:8; journal:EPILEPTIC DISORDERS; http://hdl.handle.net/11570/3231587; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-3042512169
الاتاحة: http://hdl.handle.net/11570/3231587
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10
المؤلفون: M, Cadieux-Dion, E, Andermann, P, Lachance-Touchette, O, Ansorge, C, Meloche, A, Barnabé, R I, Kuzniecky, F, Andermann, E, Faught, S, Leonberg, J A, Damiano, S F, Berkovic, G A, Rouleau, P, Cossette
المصدر: Clinical genetics. 83(6)
مصطلحات موضوعية: Adult, Family Health, Male, Polymorphism, Genetic, Base Sequence, Genotype, DNA Mutational Analysis, Membrane Proteins, HSP40 Heat-Shock Proteins, Middle Aged, Pedigree, Neuronal Ceroid-Lipofuscinoses, Mutation, Humans, Female, Genetic Predisposition to Disease, Amino Acid Sequence, Age of Onset, Sequence Deletion
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11
المؤلفون: D, Champion, S, Pathirana, C, Flynn, A, Taylor, J L, Hopper, S F, Berkovic, T, Jaaniste, W, Qiu
المصدر: European journal of pain (London, England). 16(9)
مصطلحات موضوعية: Male, Periodicity, Adolescent, Musculoskeletal Pain, Child, Preschool, Restless Legs Syndrome, Surveys and Questionnaires, Twins, Dizygotic, Humans, Female, Genetic Predisposition to Disease, Twins, Monozygotic, Child
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12Academic Journal
المؤلفون: C. Marini, I. E. Scheffer, R. Nabbout, D. Mei, K. Cox, L. M. Dibbens, J. M. McMahon, X. Iona, R. S. Carpintero, M. Elia, M. R. Cilio, N. Specchio, L. Giordano, E. Gennaro, J. H. Cross, S. Kivity, M. Y. Neufeld, Z. Afawi, E. Andermann, D. Keene, O. Dulac, F. Zara, S. F. Berkovic, R. Guerrini, J. C. Mulley, STRIANO, PASQUALE
المساهمون: Marini, C., Scheffer, I. E., Nabbout, R., Mei, D., Cox, K., Dibbens, L. M., Mcmahon, J. M., Iona, X., Carpintero, R. S., Elia, M., Cilio, M. R., Specchio, N., Giordano, L., Striano, Pasquale, Gennaro, E., Cross, J. H., Kivity, S., Neufeld, M. Y., Afawi, Z., Andermann, E., Keene, D., Dulac, O., Zara, F., Berkovic, S. F., Guerrini, R., Mulley, J. C.
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Epilepsie, Myoclonic, diagnosis/genetics, Female, Gene Amplification, genetics, Gene Deletion, Gene Duplication, Humans, Infant, Male, Mutation, Nerve Tissue Protein, Nucleic Acid Amplification Techniques, Sequence Analysi, DNA, Sequence Deletion, Sodium Channel, Syndrome
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/19400878; info:eu-repo/semantics/altIdentifier/wos/WOS:000267660800002; volume:50; firstpage:1670; lastpage:1678; numberofpages:8; journal:EPILEPSIA; http://hdl.handle.net/11567/314906; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-67649985908; http://dx.doi.org/10.1111/j.1528-1167.2009.02013.x
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13
المؤلفون: S P, Walker, M, Permezel, S F, Berkovic
المصدر: BJOG : an international journal of obstetrics and gynaecology. 116(6)
مصطلحات موضوعية: Postnatal Care, Pregnancy Complications, Epilepsy, Pregnancy, Prenatal Exposure Delayed Effects, Abnormalities, Drug-Induced, Humans, Anticonvulsants, Female, Preconception Care
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14
المؤلفون: S F Berkovic, A Arzimanoglou, R Kuzniecky, A S Harvey, André Luis Fernandes Palmini, Frederick Andermann
المصدر: Repositório Institucional PUCRS
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS -
15
المؤلفون: S F, Berkovic
المصدر: Medicine and law. 20(4)
مصطلحات موضوعية: Automobile Driving, Cognition, Epilepsy, Germany, Australia, Humans, Guidelines as Topic, Syndrome, Neuropsychological Tests, Cognition Disorders, Prognosis
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16
المؤلفون: P I, Andrews, M A, Dichter, S F, Berkovic, M R, Newton, J O, McNamara
المصدر: Neurology. 57(11 Suppl 4)
مصطلحات موضوعية: Encephalitis, Humans, Plasmapheresis, History, 20th Century
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17
المؤلفون: R S, Briellmann, G D, Jackson, Y, Torn-Broers, S F, Berkovic
المصدر: Annals of neurology. 49(1)
مصطلحات موضوعية: Adult, Male, Epilepsy, Brain, Humans, Female, Twins, Monozygotic, Middle Aged, Magnetic Resonance Imaging
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18
المؤلفون: S F, Berkovic, R, Ottman
المصدر: Epileptic disorders : international epilepsy journal with videotape. 2(4)
مصطلحات موضوعية: Epilepsy, Phenotype, Genetic Linkage, Gene Expression, Humans, Point Mutation, Molecular Biology, Ion Channels
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19
المؤلفون: S F, Berkovic
المصدر: Neurology. 55(5 Suppl 1)
مصطلحات موضوعية: Epilepsy, Quality of Life, Humans
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20
المؤلفون: S F, Berkovic
المصدر: Advances in neurology. 83
مصطلحات موضوعية: Tomography, Emission-Computed, Single-Photon, Epilepsy, Temporal Lobe, Humans, Electroencephalography, Occipital Lobe, Temporal Lobe