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1دورية أكاديمية
المؤلفون: Anca-Lelia Riza, Ioana Streață, Eugenia Roza, Magdalena Budișteanu, Catrinel Iliescu, Carmen Burloiu, Mihaela-Amelia Dobrescu, Stefania Dorobanțu, Adina Dragoș, Andra Grigorescu, Tiberiu Tătaru, Mihai Ioana, Raluca Teleanu
المصدر: Genes, Vol 13, Iss 7, p 1253 (2022)
مصطلحات موضوعية: developmental and epileptic encephalopathy, Dravet syndrome, generalized epilepsy with febrile seizures plus, NAV1.1 voltage-gated sodium channel, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume Beaure d'Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, John C. Kingswood, Anna C. Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal-Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: intelligence quotient, tuberous sclerosis complex, TSC-associated neuropsychiatric disorders, TOSCA, TAND profile, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00603/fullTest; https://doaj.org/toc/1664-2295Test
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3دورية أكاديمية
المؤلفون: Oana Tarta-Arsene, Diana Barca, Carmen Burloiu, Dana Craiu, Daniela Stoian, Madalina Leanca, Sanda Magureanu
المصدر: Romanian Journal of Neurology, Vol 12, Iss 2, Pp 63-69 (2013)
مصطلحات موضوعية: seizures, neurofi bromatosis type 1, brain damage, Medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://rjn.com.ro/articles/2013.2/RJN_2013_2_Art-03.pdfTest; https://doaj.org/toc/1843-8148Test; https://doaj.org/toc/2069-6094Test
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المؤلفون: Erica E. Davis, Mihaela Bălgrădean, Carmen Burloiu, Sheraz Khan, Ina Ofelia Focșa, Laurențiu C Bohîlțea, Azita Sadeghpour, Magdalena Budișteanu
المصدر: Biomedical Reports. 15
مصطلحات موضوعية: Retinal degeneration, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Polydactyly, business.industry, General Neuroscience, Cilium, Context (language use), General Medicine, medicine.disease, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Ciliopathy, Bardet–Biedl syndrome, Medicine, BBS12, General Pharmacology, Toxicology and Pharmaceutics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::98ebf4c95dada90d3c79d3a65fb16e56Test
https://doi.org/10.3892/br.2021.1479Test -
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المؤلفون: Ina Ofelia, Focșa, Magdalena, Budișteanu, Carmen, Burloiu, Sheraz, Khan, Azita, Sadeghpour, Laurențiu C, Bohîlțea, Erica E, Davis, Mihaela, Bălgrădean
المصدر: Biomedical Reports
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, chaperonin, pleiotropy, Bardet-Biedl syndrome, cilia, ciliopathies, Articles, oligogenic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3b0d509c771407ac841f63dd0518a5b3Test
https://pubmed.ncbi.nlm.nih.gov/34760276Test -
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المؤلفون: Alexandru Capisizu, Monica Luminos, Alina Mitel, Carmen Burloiu
المصدر: Posters.
مصطلحات موضوعية: Autoimmune disease, medicine.medical_specialty, Pathology, business.industry, Multiple sclerosis, Cranial nerves, Malignancy, medicine.disease, Gastroenterology, Cerebrospinal fluid, Internal medicine, medicine, Optic neuritis, Methotrexate, business, Meningitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6302b36756b3eb155e4cb163b66e279eTest
https://doi.org/10.1136/archdischild-2017-313273.225Test