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1دورية أكاديمية
المساهمون: Seyeon Kim, Sara Baldassari, Nam Suk Sim, Mathilde Chipaux, Georg Dorfmüller, Dong Seok Kim, Won Seok Chang, Valérie Taly, Jeong Ho Lee, Stéphanie Baulac, Kim, Dong Seok
مصطلحات موضوعية: Adolescent, Brain, Cell-Free Nucleic Acids / cerebrospinal fluid, Child, Preschool, Drug Resistant Epilepsy / cerebrospinal fluid, Drug Resistant Epilepsy / genetics, Female, Humans, Infant, Male, Mutation
العلاقة: ANNALS OF NEUROLOGY; J00166; OAK-2022-04642; OAK-2022-04643; OAK-2022-08789; https://ir.ymlib.yonsei.ac.kr/handle/22282913/190445Test; T999202167; ANNALS OF NEUROLOGY, Vol.89(6) : 1248-1252, 2021-06
الإتاحة: https://doi.org/10.1002/ana.26080Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/190445Test -
2دورية أكاديمية
المؤلفون: Datta, Alexandre N, Bahi-Buisson, Nadia, Bienvenu, Thierry, Buerki, Sarah E, Gardiner, Fiona, Cross, J Helen, Heron, Bénédicte, Kaminska, Anna, Korff, Christian, Lepine, Anne, Lesca, Gaetan, McTague, Amy, Mefford, Heather C, Mignot, Cyrill, Milh, Matthieu, Piton, Amélie, Pressler, Ronit M, Ruf, Susanne, Sadleir, Lynette G, de Saint Martin, Anne, Van Gassen, Koen, Verbeek, Nienke E, Ville, Dorothée, Villeneuve, Nathalie, Zacher, Pia, Scheffer, Ingrid E, Lemke, Johannes R
المصدر: ISSN: 0013-9580 ; Epilepsia, vol. 62, no. 2 (2021) p. 325-334.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, ALG13, West syndrome, Developmental and epileptic encephalopathy, Epileptic spasms, Adrenocorticotropic Hormone / therapeutic use, Anticonvulsants / therapeutic use, Child, Preschool, Developmental Disabilities / genetics, Developmental Disabilities / physiopathology, Diet, Ketogenic, Drug Resistant Epilepsy / genetics, Drug Resistant Epilepsy / physiopathology, Drug Resistant Epilepsy / therapy, Dyskinesias / genetics, Dyskinesias / physiopathology, Electroencephalography, Epileptic Syndromes / genetics, Epileptic Syndromes / physiopathology, Epileptic Syndromes / therapy, Female, Glucocorticoids / therapeutic use, Hormones / therapeutic use, Humans, Infant, Language Development Disorders / genetics, Language Development Disorders / physiopathology, Magnetic Resonance Imaging
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33410528; https://archive-ouverte.unige.ch/unige:170836Test; unige:170836
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3دورية أكاديمية
المؤلفون: Hoogland, Govert, Hendriksen, Ruben G F, Slegers, Rutger J, Hendriks, Marc P H, Schijns, Olaf E M G, Aalbers, Marlien W, Vles, Johan S H
المصدر: Hoogland , G , Hendriksen , R G F , Slegers , R J , Hendriks , M P H , Schijns , O E M G , Aalbers , M W & Vles , J S H 2019 , ' The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning ' , Hippocampus , vol. 29 , no. 2 , pp. 102-110 . https://doi.org/10.1002/hipo.23015Test
مصطلحات موضوعية: Adult, Cognition/physiology, Cognition Disorders/genetics, Drug Resistant Epilepsy/genetics, Dystrophin/biosynthesis, Female, Gene Expression, Hippocampus/metabolism, Humans, Male, Memory Disorders/genetics, Neuropsychological Tests, Protein Isoforms/biosynthesis
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/hipo.23015Test
https://hdl.handle.net/11370/2aa2d681-6349-4eb3-ab28-8c954d4ec0abTest
https://research.rug.nl/en/publications/2aa2d681-6349-4eb3-ab28-8c954d4ec0abTest
https://pure.rug.nl/ws/files/129766691/The_expression_of_the_distal_dystrophin_isoforms_Dp140_and_Dp71_in_the_human_epileptic_hippocampus_in_relation_to_cognitive_functioning.pdfTest -
4دورية أكاديمية
المؤلفون: Benova, Barbora, Sanders, Maurits W.C.B., Uhrova-Meszarosova, Anna, Belohlavkova, Anezka, Hermanovska, Barbora, Novak, Vilem, Stanek, David, Vlckova, Marketa, Zamecnik, Josef, Aronica, Eleonora, Braun, Kees P.J., Koeleman, Bobby P.C., Jansen, Floor E., Krsek, Pavel
المساهمون: Opleiding Neurologie, Pathologie, Neurologen, Brain, Genetica, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer
مصطلحات موضوعية: Epilepsy surgery, Focal cortical dysplasia, Focal epilepsy, GATOR1, Malformations of cortical development, Targeted gene panel sequencing, Drug Resistant Epilepsy/genetics, Malformations of Cortical Development/genetics, Humans, Male, Magnetic Resonance Imaging, Tumor Suppressor Proteins/genetics, Phenotype, Adolescent, GTPase-Activating Proteins/genetics, Germ-Line Mutation, Female, Retrospective Studies, Child, Clinical Neurology, Pediatrics, Perinatology, and Child Health, Case Reports, Journal Article
وصف الملف: application/pdf
