المؤلفون: U. Stephani, Sarah von Spiczak, Gerhard Luef

المصدر: Zeitschrift für Epileptologie. 34:277-283

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c6688264b2d74cbdf13a08f6ac79ea9
https://doi.org/10.1007/s10309-021-00429-w

المؤلفون: R. Mameniskiene, T. Bast, C. Bentes, P. Dimova, T. Granata, H. Høgenhaven, B. J. Jakubi, P. Marusic, G. Melikyan, R. Michelucci, K. Y. Mukhin, B. Oehl, F. Ragona, A. O. Rossetti, G. Rubboli, S. Schubert, U. Stephani, J. Strobel, J. Zarubova, P. Wolf, M.P. Canevini, A. Vignoli

المساهمون: R. Mameniskiene, T. Bast, C. Bente, M.P. Canevini, P. Dimova, T. Granata, H. Høgenhaven, B.J. Jakubi, P. Marusic, G. Melikyan, R. Michelucci, K.Y. Mukhin, B. Oehl, F. Ragona, A.O. Rossetti, G. Rubboli, S. Schubert, U. Stephani, J. Strobel, A. Vignoli, J. Zarubova, P. Wolf

مصطلحات موضوعية: Aura continua, Developments of epilepsia partialis continua, Epilepsia partialis continua etiologie, Focal status epilepticu, Nonprogressive epilepsia partialis continua, Sensory epilepsia partialis continua, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/21320117; info:eu-repo/semantics/altIdentifier/wos/WOS:000292460700020; volume:52; issue:6; firstpage:1168; lastpage:1176; numberofpages:9; journal:EPILEPSIA; http://hdl.handle.net/2434/223664; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79958861318

الاتاحة: http://hdl.handle.net/2434/223664
https://doi.org/10.1111/j.1528-1167.2010.02974.x

المؤلفون: Tilman Polster, Irene Lehmann, Hiltrud Muhle, U. Stephani, Sarah von Spiczak

المصدر: Zeitschrift für Epileptologie. 32:298-302

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ac1bcbcc4728f2e02476b3d9e1c3b62
https://doi.org/10.1007/s10309-019-0280-8

المؤلفون: Sarah von Spiczak, U. Stephani

المصدر: Zeitschrift für Epileptologie. 32:107-115

مصطلحات موضوعية: 0301 basic medicine, Gynecology, medicine.medical_specialty, business.industry, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Cannabidiol, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c83b19937b7786740bef5eeffb131a47
https://doi.org/10.1007/s10309-018-0236-4

المؤلفون: Michael Siniatchkin, S. Scharlach, Rainer Boor, S. von Spiczak, Sidratul Moontaha, C. Doege, U. Stephani, Theodor W. May, Andreas Galka

المصدر: Neuropediatrics. 48:S1-S45

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, Symptomatic epilepsy, medicine, Physical therapy, State space, Neurology (clinical), General Medicine, business, Anticonvulsive therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5a2fd5cd244d0ae0a698d69f4df3371
https://doi.org/10.1055/s-0037-1603005

المؤلفون: U. Stephani, P. Holterhus, S. Domscheit

المصدر: Neuropediatrics. 48:S1-S45

مصطلحات موضوعية: Type 1 diabetes, Pediatrics, medicine.medical_specialty, Pathology, biology, business.industry, General Medicine, medicine.disease, Epilepsy in children, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Neurology (clinical), Antibody, business, Association (psychology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c943627e49f5079182d4718186277664
https://doi.org/10.1055/s-0037-1602956

المؤلفون: Antonio Gil Nagel, Bradley S. Galer, Glenn Morrison, Michael Lock, Tilman Polster, Nathalie Villeneuve, U. Stephani, Rima Nabbout, Stéphane Auvin, Catherine Chiron, Gail Farfel, Rocío Sánchez-Carpintero, Arun Mistry, Sameer M. Zuberi

المصدر: Neuropediatrics.

مصطلحات موضوعية: Convulsive Seizures, S syndrome, business.industry, Anesthesia, Stiripentol, Medicine, Phases of clinical research, business, Placebo, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ba7dd10c2ccd75f4fec43c6899882649
https://doi.org/10.1055/s-0039-1698218

المؤلفون: U. Stephani, Robert D. Nass, Rainer Surges, Johannes Kreuzer, Sarah von Spiczak, Salima Houta

المصدر: Digitale Transformation von Dienstleistungen im Gesundheitswesen VI ISBN: 9783658254605

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7d3d26ae287ae10617c6cd0b4e13545
https://doi.org/10.1007/978-3-658-25461-2_25

المؤلفون: Friederike Moeller, K. Gröning, U. Stephani, Michael Siniatchkin

المصدر: Zeitschrift für Epileptologie. 26:246-250

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e258e91b2553eca37092d22c816ed8de
https://doi.org/10.1007/s10309-013-0334-2

المؤلفون: J. Hedderich, U. Stephani, U. A. Kopp, S. Wegner, G. Carlsson

المصدر: Neuropediatrics. 47

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Photosensitivity, business.industry, Pediatrics, Perinatology and Child Health, Neuropsychology, Medicine, Neurology (clinical), General Medicine, business, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28364c9d0e207a03728636661901a744
https://doi.org/10.1055/s-0036-1583676

المؤلفون: U. Stephani, O. Traupe, J. E. Reutermann, J. Hedderich, C. Kaernbach

المصدر: Neuropediatrics. 47

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Sympathetic activity, General Medicine, 030105 genetics & heredity, Clinical study, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb85099e482cbf8b4dc0de706eb52d53
https://doi.org/10.1055/s-0036-1583693

المؤلفون: Dieter Janz, Bettina Schmitz, Ute A. Kopp, U. Stephani, Gerd Kurlemann, Matthias Kliegel, Britta Wandschneider

المصدر: Neurology. 75:2161-2167

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Neuropsychological Tests, Audiology, Idiopathic generalized epilepsy, Executive Function, Young Adult, Epilepsy, Cognition, Memory, Prospective memory, medicine, Humans, Genetic Predisposition to Disease, Sibling, Psychiatry, Siblings, Myoclonic Epilepsy, Juvenile, Retention, Psychology, Electroencephalography, medicine.disease, Executive functions, Case-Control Studies, Myoclonic epilepsy, Female, Neurology (clinical), Juvenile myoclonic epilepsy, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::810502315ec26e15753e5ff01e83a4e3
https://doi.org/10.1212/wnl.0b013e318202010a

المؤلفون: Rupprecht Thorbecke, M. Pfäfflin, I. Coban, Theodor W. May, U. Stephani, D. Balsmeier

المصدر: Zeitschrift für Epileptologie. 23:82-97

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a2b561ebddf1604eb3b41a603c354643
https://doi.org/10.1007/s10309-009-0088-z

المؤلفون: R. S. Møller, Y. G. Weber, L. L. Klitten, H. Trucks, H. Muhle, W. S. Kunz, H. C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I. M. Rückert, H. E. Wichmann, J. P. Ernst, C. Schurmann, H. J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, F. Zimprich, M. Mörzinger, M. Feucht, A. Suls, S. Weckhuysen, L. Claes, L. Deprez, K. Smets, T. Van Dyck, T. Deconinck, P. De Jonghe, R. Velizarova, P. Dimova, M. Radionova, I. Tournev, D. Kancheva, R. Kaneva, A. Jordanova, D. B. Kjelgaard, A. E. Lehesjoki, A. Siren, S. Baulac, E. Leguern, S. Von Spiczak, P. Ostertag, M. Leber, C. Leu, M. R. Toliat, P. Nürnberg, A. Hempelmann, F. Rüschendorf, C. E. Elger, A. A. Kleefuß Lie, R. Surges, V. Gaus, D. Janz, B. Schmitz, K. M. Klein, P. S. Reif, W. H. Oertel, H. M. Hamer, F. Rosenow, F. Becker, C. Marini, R. Guerrini, D. Mei, V. Norci, F. Zara, P. Striano, A. Robbiano, M. Pezzella, A. Bianchi, A. Gambardella, P. Tinuper, A. La Neve, G. Capovilla, P. Vigliano, G. Crichiutti, F. Vanadia, A. Coppola, S. Striano, M. T. Giallonardo, S. Franceschetti, V. Belcastro, P. Benna, G. Coppola, A. De Palo, E. Ferlazzo, M. Vecchi, V. Martinelli, F. Bisulli, F. Beccaria, E. Del Giudice, M. Mancardi, G. Stranci, A. Scabar, G. Gobbi, I. Giordano, B. P. C. Koeleman, C. De Kovel, D. Lindhout, G. J. De Haan, U. Ozbeck, N. Bebek, B. Baykan, O. Ozdemir, S. Ugur, E. Kocasoy Orhan, E. Yücesan, N. Cine, A. Gokyigit, C. Gurses, G. Gul, Z. Yapici, C. Ozkara, H. Caglayan, O. Yalcin, D. Yalcin, D. Turkdogan, G. Dizdarer, K. Agan, A. Vignoli

المساهمون: R.S. Møller, Y.G. Weber, L.L. Klitten, H. Truck, H. Muhle, W.S. Kunz, H.C. Mefford, A. Franke, M. Kautza, P. Wolf, D. Dennig, S. Schreiber, I.-M. Rückert, H.-E. Wichmann, J.P. Ernst, C. Schurmann, H.J. Grabe, N. Tommerup, U. Stephani, H. Lerche, H. Hjalgrim, I. Helbig, T. Sander, F. Zimprich, M. Mörzinger, M. Feucht, A. Sul, S. Weckhuysen, L. Clae, L. Deprez, K. Smet, T. Van Dyck, T. Deconinck, P. De Jonghe, R. Velizarova, P. Dimova, M. Radionova, I. Tournev, D. Kancheva, R. Kaneva, A. Jordanova, D.B. Kjelgaard, A.-E. Lehesjoki, A. Siren, S. Baulac, E. Leguern, S. Von Spiczak, P. Ostertag, M. Leber, C. Leu, M.R. Toliat, P. Nürnberg, A. Hempelmann, F. Rüschendorf, C.E. Elger, A.A. Kleefuß-Lie, R. Surge, V. Gau, D. Janz, B. Schmitz, K.M. Klein, P.S. Reif, W.H. Oertel, H.M. Hamer, F. Rosenow, F. Becker, C. Marini, R. Guerrini, D. Mei, V. Norci, F. Zara, P. Striano, A. Robbiano, M. Pezzella, A. Bianchi, A. Gambardella, P. Tinuper, A. La Neve, G. Capovilla, P. Vigliano, G. Crichiutti, F. Vanadia, A. Vignoli, A. Coppola, S. Striano, M.T. Giallonardo, S. Franceschetti, V. Belcastro, P. Benna, G. Coppola, A. De Palo, E. Ferlazzo, M. Vecchi, V. Martinelli, F. Bisulli, F. Beccaria, E. Del Giudice, M. Mancardi, G. Stranci, A. Scabar

مصطلحات موضوعية: Adult, Age of Onset, Anticonvulsants, Case-Control Studies, Cell Adhesion Molecules, Neuronal, DNA Copy Number Variations, Electroencephalography, Epilepsy, Generalized, Exons, Family, Female, Fructose, Gene Deletion, Genotype, Human, Infant, Male, Microarray Analysis, Middle Aged, Nerve Tissue Proteins, Neuropsychological Tests, Odds Ratio, Pedigree, Triazines, Valproic Acid, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/23294455; info:eu-repo/semantics/altIdentifier/wos/WOS:000314750200008; volume:54; issue:2; firstpage:256; lastpage:264; numberofpages:9; journal:EPILEPSIA; http://hdl.handle.net/2434/223765; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978024392

الاتاحة: http://hdl.handle.net/2434/223765
https://doi.org/10.1111/epi.12078

المؤلفون: Moritz Tacke, Lucia Gerstl, Florian Heinen, Isabel Heukaeufer, Michaela Bonfert, Thomas Bast, Sonia Cornell, Bernd Axel Neubauer, Ingo Borggraefe, F.A.M. Baumeister, M. Baethmann, B. Schreiber-Gollwitzer, K. Bentele, C. Blank, J. Held, H.M. Blank, K. Liebrich, H. Bode, J. Braun, F. Bosch, R. Wagner, U. Brandl, K. Wetzel, K. Brockmann, C. Schlockwerder, P. Dahlem, I. Baudler, J.P. Ernst, H. Mayer, E. Feldmann, A. Pattber-Wolff, A. Fiedler, S. Sonnleitner, M. Gerigk, S. Heß, T. Feiereis, C. Hikel, H.G. Hoffmann, A. Rickeshenrich, M. Kieslich, R. Dewitz, M. Baz Bartels, J. Klepper, S. Kleuker, G. Kluger, A. Kirsch, H. Koch, U. Meerpohl, W. Koch, R. Korinthenberg, B. Stehle-Renner, I. Krois, A. Wegener, H. Kühne, C. Weiß, G. Kurlemann, U. Elkemann, M. Mandl, A. Friedl, U. Mause, M. Müller, P. Navratil, U. Iken, J. Opp, J. Walter, J. Penzien, V. Prietsch, B. Siegrist, A. Quattländer, D. Rating, G. Reuner, U. Schara, M.G. Shamdeen, H. Struchholz, A. Sprinz, H. Wendker-Magrabi, U. Stephani, H. Muhle, G. Carlsson, H.M. Straßburg, H. Ottensmeier, B. Töpke, K. Tatsek, R. Trollmann, E. Poida-Herzing, E. Tuschen-Hofstätter, M. Menschig, S. Waltz, A. Pickartz, G. Weber, T. Gehnen, F.U. Wien, J. Antemann, M. Wolff, E. Serra, T. Polster, H. Freitag, Ö Sönmez, K. Rheinhardt, M. Traus, A. Schröder, S. Hoovey, C. Navratil

المساهمون: Schara, Ulrike (Beitragende*r)

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 20(6)

مصطلحات موضوعية: Male, Levetiracetam, Medizin, Thiazines, Child Behavior, Neuropsychological Tests, Verbal learning, 03 medical and health sciences, Executive Function, 0302 clinical medicine, Cognition, Double-Blind Method, Memory, 030225 pediatrics, medicine, Humans, Cognitive skill, Effects of sleep deprivation on cognitive performance, Neuropsychological assessment, Child, Language, Intelligence Tests, medicine.diagnostic_test, Kaufman Assessment Battery for Children, Neuropsychology, General Medicine, Epilepsy, Rolandic, Piracetam, Space Perception, Pediatrics, Perinatology and Child Health, Mental Recall, Anticonvulsants, Female, Neurology (clinical), Verbal memory, Psychology, 030217 neurology & neurosurgery, Psychomotor Performance, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::674a305dad2c4c11273904c70822b2f1
https://pubmed.ncbi.nlm.nih.gov/27553576

المؤلفون: de Kovel, Carolien G.F., Brilstra, Eva H., van Kempen, Marjan J.A., van‘t Slot, Ruben, Nijman, Isaac J., Afawi, Zaid, De Jonghe, Peter, Djémié, Tania, Guerrini, Renzo, Hardies, Katia, Helbig, Ingo, Hendrickx, Rik, Kanaan, Moine, Kramer, Uri, Lehesjoki, Anna‐Elina E., Lemke, Johannes R., Marini, Carla, Mei, Davide, Møller, Rikke S., Pendziwiat, Manuela, Stamberger, Hannah, Suls, Arvid, Weckhuysen, Sarah, Koeleman, Bobby P.C., R, Balling, N, Barisic, S, Baulac, HS, Caglayan, DC, Craiu, C, Depienne, P, Gormley, H, Hjalgrim, D, Hoffman‐Zacharska, J, Jähn, KM, Klein, V, Komarek, E, LeGuern, H, Lerche, P, May, H, Muhle, D, Pal, A, Palotie, F, Rosenow, K, Selmer, JM, Serratosa, SM, Sisodiya, U, Stephani, K, Sterbova, P, Striano, T, Talvik, M, van Haelst, N, Verbeek, S, von Spiczak, YG, Weber

المساهمون: Other departments, Amsterdam Reproduction & Development (AR&D), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, EuroEPINOMICS RES Consortium, Neuroscience Center, Research Programs Unit, Department of Medical and Clinical Genetics, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology

المصدر: Molecular genetics and genomic medicine, 4(5), 568-580. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 4(5), 568-580. John Wiley and Sons Inc.
de Kovel, C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M, Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M, Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
Molecular genetics & genomic medicine
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(5), 568. John Wiley and Sons Inc.

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, education, EEF1A2, Genomics, targeted panel sequencing, Biology, Frameshift mutation, loss-of-function, 03 medical and health sciences, Genotype, Journal Article, Genetics, De novo, HNRNPU, X‐linked, epileptic encephalopathy, loss‐of‐function, prioritization, recessive, Molecular Biology, Gene, Genetics (clinical), Loss function, X-linked, 3112 Neurosciences, Original Articles, Phenotype, 3. Good health, 030104 developmental biology, Original Article, Human medicine

وصف الملف: application/pdf; pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dab4670934e26f779833ea21ea6ed
https://pure.amc.nl/en/publications/targeted-sequencing-of-351-candidate-genes-for-epileptic-encephalopathy-in-a-large-cohort-of-patients(f62cb049-4457-4e53-9a45-97fa456012c5).html

المؤلفون: Hans Hartmann, J. Herchenbach, Frank Donnerstag, U. Stephani, Moritz Meins, H. J. Christen, P. Ledaal, M. Hagedorn, Anibh M. Das, Thomas Lücke

المصدر: Neuropediatrics. 38:143-147

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Keratin 14, DNA Mutational Analysis, macromolecular substances, Biology, Exon, Protein structure, Glial Fibrillary Acidic Protein, medicine, Humans, Intermediate Filament Protein, Cysteine, Age of Onset, Intermediate filament, Alanine, Glial fibrillary acidic protein, Leukodystrophy, Infant, Valine, Exons, General Medicine, medicine.disease, Magnetic Resonance Imaging, Molecular biology, Alexander disease, Frontal Lobe, Protein Structure, Tertiary, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Tyrosine, Female, Alexander Disease, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b61ff3a86334fab450b62884893a022
https://doi.org/10.1055/s-2007-985902

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

الاتاحة: http://hdl.handle.net/11573/442818
https://doi.org/10.1111/j.1528-1167.2011.03379.x

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

الاتاحة: http://hdl.handle.net/11585/145290
https://doi.org/10.1093/hmg/dds373
http://dx.doi.org/.1093/hmg/dds373

المؤلفون: K. Groening, S. Wolff, M. Siniatchkin, Andreas Galka, U. Stephani, T. Ozaki, Jorge Bosch-Bayard

مصطلحات موضوعية: General linear model, Nonlinear autoregressive exogenous model, Mathematical optimization, Autoregressive model, Series (mathematics), Computer science, Applied mathematics, State space, Moving-average model, STAR model

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35a8e0faeeb3cbed6afe4abcfa2f6368
https://doi.org/10.1017/cbo9781139941433.005