المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173027Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173027Test/

المؤلفون: Xueyang Niu, Yan Sun, Ying Yang, Miaomiao Cheng, Quanzhen Tan, Jie Zhang, Yuehua Zhang

المصدر: Acta Epileptologica, Vol 3, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: RHOBTB2, Gene, Epilepsy, Paroxysmal movement disorders, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2524-4434Test

الوصول الحر: https://doaj.org/article/cc4c882d20a44437b6ba9a021a125d57Test

المؤلفون: Azusa Ikeda, Harutaka Saijo, Kenji Kurosawa, Kenjiro Kosaki, Masahiko Tanabe, Megumi Tsuji, Mizue Iai, Tomohide Goto, Yasuhiro Kawai, Yu Tsuyusaki, 井合 瑞江, 小崎 健次郎, 後藤 知英, 池田 梓, 河合 泰寛, 田辺 仁彦, 西條 晴貴, 辻 恵, 露崎 悠, 黒澤 健司

المصدر: 脳と発達 / NO TO HATTATSU. 2023, 55(4):274

المؤلفون: Panagiotakaki, Eleni, Tiziano, Francesco, Mikati, Mohamad, Vijfhuizen, Lisanne, Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster, Walley, Nicole, de Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cecile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher, George, Alfred, Gurrieri, Fiorella, van den Maagdenberg, Arn, Heinzen, Erin

المساهمون: Hospices Civils de Lyon (HCL), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Duke University Durham, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Pathophysiologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart Roma (Unicatt), Università degli studi di Genova = University of Genoa (UniGe), IRCCS Istituto Giannina Gaslini Genoa, Italy, Hôpital de la Timone CHU - APHM (TIMONE), Université Catholique de Louvain = Catholic University of Louvain (UCL), Euro-Mediterranean Institute of Science and Technology (IEMEST), Radboud University Medical Center Nijmegen, Feinberg School of Medicine, Northwestern University Evanston, Università Campus Bio-Medico di Roma / University Campus Bio-Medico of Rome ( UCBM), University of North Carolina at Chapel Hill NC, USA (UNC)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: alternating hemiplegia of childhood, AHC, exome sequencing, genetics, RHOBTB2, SCN2A, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38097767; hal-04382771; https://hal.science/hal-04382771Test; https://hal.science/hal-04382771/documentTest; https://hal.science/hal-04382771/file/Panagiotakaki_EJHG-2023.pdfTest; PUBMED: 38097767

الإتاحة: https://doi.org/10.1038/s41431-023-01489-4Test
https://hal.science/hal-04382771Test
https://hal.science/hal-04382771/documentTest
https://hal.science/hal-04382771/file/Panagiotakaki_EJHG-2023.pdfTest

المؤلفون: Enchong Zhang, Fujisawa Shiori, Mo Zhang, Peng Wang, Jieqian He, Yuntian Ge, Yongsheng Song, Liping Shan

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)

مصطلحات موضوعية: prostate cancer, predictive model, prognosis, RhoBTB2, TNFRSF10C, systems biology, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fmolb.2021.676138/fullTest; https://doaj.org/toc/2296-889XTest

الوصول الحر: https://doaj.org/article/2f9470af5ab04ba1b491f75eb6d9b3fdTest

المؤلفون: Cai, Shuo, Rivero-Crespo, Francisco, Schenková, Kristína

مصطلحات موضوعية: RhoBTB2

العلاقة: https://hull-repository.worktribe.com/output/442646Test; Atlas of genetics and cytogenetics in oncology and haematology; https://hull-repository.worktribe.com/file/442646/1Test/RHOBTB2%20%28Rho-related%20BTB%20domain%20containing%202%29.html

الإتاحة: https://hull-repository.worktribe.com/file/442646/1Test/RHOBTB2%20%28Rho-related%20BTB%20domain%20containing%202%29.html
https://hull-repository.worktribe.com/output/442646Test

المؤلفون: Jie Zhang, Xueyang Niu, Yan Sun, Yuehua Zhang, Quanzhen Tan, Ying Yang, Miaomiao Cheng

المصدر: Acta Epileptologica, Vol 3, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Pediatrics, Epilepsy, Neurology, Movement disorders, medicine.diagnostic_test, business.industry, Electroencephalography, Cortical dysplasia, medicine.disease, Gene, Extrapyramidal symptoms, RHOBTB2, Paroxysmal movement disorders, General Earth and Planetary Sciences, Medicine, Ictal, Neurology. Diseases of the nervous system, medicine.symptom, RC346-429, business, General Environmental Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63d79605ecc253adadca296977c106feTest
https://doi.org/10.1186/s42494-021-00056-yTest

المؤلفون: Fujisawa Shiori, Mo Zhang, Yuntian Ge, Jieqian He, Peng Wang, Enchong Zhang, Liping Shan, Yongsheng Song

المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)
Frontiers in Molecular Biosciences

مصطلحات موضوعية: Oncology, medicine.medical_specialty, QH301-705.5, Biology, Malignancy, Biochemistry, Genetics and Molecular Biology (miscellaneous), Biochemistry, Transcriptome, predictive model, Prostate cancer, Internal medicine, Consensus clustering, medicine, Molecular Biosciences, Biology (General), Molecular Biology, Gene, Original Research, Prostate cancer risk, Weighted correlation network analysis, systems biology, medicine.disease, prostate cancer, TNFRSF10C, RhoBTB2, Prognostic model, prognosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8f2bbf77d84792bb0d746d7a5fbba5Test
https://www.frontiersin.org/articles/10.3389/fmolb.2021.676138/fullTest

المؤلفون: Enchong Zhang (9638024), Fujisawa Shiori (10180670), Mo Zhang (2293072), Peng Wang (34436), Jieqian He (9638027), Yuntian Ge (9907914), Yongsheng Song (2508616), Liping Shan (9418196)

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, prostate cancer, predictive model, prognosis, RhoBTB2, TNFRSF10C, systems biology

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Establishment_of_Novel_Prostate_Cancer_Risk_Subtypes_and_A_Twelve-Gene_Prognostic_Model_PDF/14693058Test

الإتاحة: https://doi.org/10.3389/fmolb.2021.676138.s001Test

المؤلفون: Spagnoli C., Soliani L., Caraffi S. G., Baga M., Rizzi S., Salerno G. G., Frattini D., Garavelli L., Koskenvuo J., Pisani F., Fusco C.

المساهمون: Spagnoli, C., Soliani, L., Caraffi, S. G., Baga, M., Rizzi, S., Salerno, G. G., Frattini, D., Garavelli, L., Koskenvuo, J., Pisani, F., Fusco, C.

مصطلحات موضوعية: Carbamazepine, Epileptic encephalopathy, Movement disorder, Neurogenetic, RHOBTB2

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000578004700013; volume:76; firstpage:54; lastpage:55; numberofpages:2; journal:PARKINSONISM & RELATED DISORDERS; https://hdl.handle.net/11573/1669919Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089435915

الإتاحة: https://doi.org/10.1016/j.parkreldis.2020.05.031Test
https://hdl.handle.net/11573/1669919Test