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1دورية أكاديمية
المؤلفون: Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir
المصدر: Epilepsia Open, Vol 7, Iss 1, Pp 170-180 (2022)
مصطلحات موضوعية: developmental and epileptic encephalopathy, epilepsy, infantile, movement disorder, myoclonic, RARS2, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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2دورية أكاديمية
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المؤلفون: Kathryn Bain, Suzanne Davis Bombria, Christine Janet Chapparo, Michelle Donelly, Robert Heard, Sue Treacy
المصدر: Child: Care, Health and Development.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Public Health, Environmental and Occupational Health, Developmental and Educational Psychology
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المؤلفون: Shayma Ali, James Stanley, Suzanne Davis, Ngaire Keenan, Ingrid E. Scheffer, Lynette G. Sadleir
المصدر: Developmental Medicine & Child Neurology.
مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical)
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المؤلفون: Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir
المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), MUMC+: DA KG Lab Specialisten (9)
المصدر: Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173مصطلحات موضوعية: Epilepsy/diagnostic imaging, Drug Resistant Epilepsy, PROTEINS, Electroencephalography, Intellectual Disability/diagnostic imaging, HYPOTONIA-SEIZURES SYNDROME, PHENOTYPE, congenital disorder of glycosylation, CONGENITAL-ANOMALIES, Phenotype, Neurology, Seizures, intellectual disability, Humans, epilepsy, Female, Human medicine, Neurology (clinical), developmental and epileptic encephalopathy, PRENATAL-DIAGNOSIS, Seizures/genetics, GPI-anchoring disorder, MUTATION
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المؤلفون: Suzanne Davis Clutter
مصطلحات موضوعية: Chemotherapy, business.industry, medicine.medical_treatment, Cancer research, Medicine, Bone Marrow Stromal Cell, business, Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::655aa12c4d23fcf69201e9355ee56c11
https://doi.org/10.33915/etd.2397 -
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المؤلفون: Giuseppe Merla, Alison M. Muir, Boris Keren, Natascia Malerba, Chontelle King, Ingrid E. Scheffer, Peter Kannu, Brian H.Y. Chung, Gemma Poke, Mahendranath Moharir, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine L.F. Fung, Guillem de Valles-Ibáñez, Heather C Mefford, Thorsten Stanley, Lynette G. Sadleir, Zhuo Shao, Anne Isabelle Vermersch, Cyril Mignot, Adina Ilea, Cheuk Wing Fung, Suzanne Davis
المساهمون: Poke, G., King, C., Muir, A., de Valles Ibáñez, G., Germano, M., de Souza, C., Fung, J., Chung, B., Fung, Cw, Mignot, C., Ilea, A., Keren, B., Davis, S., Stanley, T., Moharir, M., Kannu, P., Shao, Z., Malerba, N., Merla, G, Mefford, Hc, Scheffer, Ie, Sadleir, Lg.
المصدر: EpilepsiaREFERENCES. 60(11)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Encephalopathy, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, medicine, Humans, Child, Cerebral atrophy, Brain Diseases, business.industry, GTP-Binding Protein beta Subunits, medicine.disease, Hypotonia, Hypsarrhythmia, Pedigree, Epileptic spasms, Burst suppression, 030104 developmental biology, Neurology, Child, Preschool, Cerebellar atrophy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Braden Te Ao, Vanessa Thornton, Valery L. Feigin, Rhonda Litchfield, Ettore Beghi, Jayaganth Jayabal, Peter A. Jones, Elizabeth B. Walker, Peter S. Bergin, Stuart R Dalziel, Suzanne Davis, Erica Beilharz, Shona Scott, Andrea O. Rossetti, Kim Yates, Alice Brockington, Priya Parmar, Jerelyn Timog, Lynair Roberts
المصدر: Epilepsia. 60(8)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Native Hawaiian or Other Pacific Islander, Adolescent, Population, Status epilepticus, White People, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Status Epilepticus, Asian People, Risk Factors, Epidemiology, medicine, Humans, In patient, Prospective Studies, education, Child, Aged, Aged, 80 and over, education.field_of_study, business.industry, Incidence (epidemiology), Incidence, Age Factors, Infant, Middle Aged, Confidence interval, 030104 developmental biology, Neurology, Child, Preschool, Etiology, Pacific islanders, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, New Zealand