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المؤلفون: Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan S Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
المساهمون: Neurology, Clinical Genetics, Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Department of Pathology
المصدر: Brain, 145(7), 2301-2312. OXFORD UNIV PRESS
Brain, 145(7), 2301-2312. Oxford University Pressمصطلحات موضوعية: Brain Diseases, Drug Resistant Epilepsy, CYSTIC-FIBROSIS, GENES, LEUCINE-RICH, 3112 Neurosciences, ADAM22, Intracellular Signaling Peptides and Proteins, PROTEIN, Nerve Tissue Proteins, PHENOTYPE, 3124 Neurology and psychiatry, refractory seizures, ADAM Proteins, Humans, SEIZURES, LGI1, LIMBIC ENCEPHALITIS, Neurology (clinical), developmental and epileptic encephalopathy, Atrophy, Epilèpsia en els infants, Disks Large Homolog 4 Protein
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2378a027a1f91cd1deec43f224121e
https://doi.org/10.1093/brain/awac116 -
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المؤلفون: Giuseppe Matullo, Brett H. Graham, Elisa Coluzzi, Karit Reinson, Antonella Sgura, Monica H. Wojcik, Luca Pannone, Melissa P. Wasserstein, Lucia Pedace, Seema R. Lalani, Elena Carcarino, Daniela Q.C.M. Barge-Schaapveld, Anke Van Dijck, Austin Larson, Giovanna Carpentieri, Alessandro Bruselles, Simona Petrucci, Simone Pizzi, Elisabetta Flex, Cornelia Di Gaetano, Francesca Clementina Radio, Bruno Dallapiccola, Serena Cecchetti, Clara Viberti, Enrico Bertini, Chieko Chijiwa, Emilia K. Bijlsma, Elisabetta Ferretti, William J. Craigen, Cristina Andreoli, Brian G. Skotko, Daan J. Kamphuis, Alessandro De Luca, J. Louw Roos, Giuseppina Catanzaro, Sandra Kenis, Mariëtte J.V. Hoffer, Katrin Õunap, Maria Karayiorgou, Gijs W. E. Santen, Annette P.M. van den Elzen, Kathleen Brown, Haley Streff, M. E. Suzanne Lewis, Claudia A. L. Ruivenkamp, Xiaoyan Ge, Andrea Ciolfi, Nathalie Van der Aa, Marco Tartaglia, Rossella Rota, Amber Begtrup, Richard E. Person, Simone Martinelli, Koen L.I. van Gassen, R. Frank Kooy, Marije Meuwissen, Magdalena Walkiewicz, Evelina Miele, Marije Koopmans, Sander Pajusalu
المساهمون: Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M., Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Ounap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F., Tartaglia, M.
المصدر: The American journal of human genetics
American Journal of Human Genetics, 105(3), 493. Cell Press
American Journal of Human Genetics, 105(3), 493-508. CELL PRESSمصطلحات موضوعية: 0301 basic medicine, Premature aging, Senescence, Male, Cell division, methylation profiling, Article, Chromatin remodeling, chromatin remodeling, Histones, 03 medical and health sciences, chemistry.chemical_compound, replicative senescence, 0302 clinical medicine, HIST1H1E, chromatin dynamic, Genetics, accelerated aging, cellular senescence, Humans, Genetics(clinical), Child, Biology, Genetics (clinical), chromatin compaction, chromatin dynamics, linker histone, linker histone H1.4, Aneuploidy, Cell Nucleolus, Cellular Senescence, Chromatin, DNA Methylation, Female, Infant, Middle Aged, biology, DNA replication, Cell biology, 030104 developmental biology, Histone, chemistry, biology.protein, Human medicine, 030217 neurology & neurosurgery, DNA
وصف الملف: text/plain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4aede8a428ff2cc48fd476c697e3a3
http://hdl.handle.net/11573/1383117 -
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المؤلفون: Inge, Geut, Daan J, Kamphuis
المصدر: Nederlands tijdschrift voor geneeskunde. 155
مصطلحات موضوعية: Thromboembolism, Humans, Female, Middle Aged, Blindness, Aneurysm, Carotid Artery, Internal, Neck
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c4852c9aa95054b66bc45fe18d24e533
https://pubmed.ncbi.nlm.nih.gov/21649943 -
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المؤلفون: Daan J. Kamphuis, Theo D. Witkamp, Tammo Delhaas
المصدر: Pediatric Radiology. 28:544-546
مصطلحات موضوعية: Male, Nervous system, Weakness, medicine.medical_specialty, Cord, Guillain-Barre syndrome, business.industry, Central nervous system, Polyradiculoneuropathy, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Surgery, Central nervous system disease, medicine.anatomical_structure, Spinal Cord, Edema, Pediatrics, Perinatology and Child Health, Humans, Medicine, Radiology, Nuclear Medicine and imaging, medicine.symptom, Child, business
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المؤلفون: Glenn E. Matroos, Daan J. Kamphuis, Peter N. van Harten
المصدر: Progress in neuro-psychopharmacologybiological psychiatry. 20(2)
مصطلحات موضوعية: Adult, Male, Psychosis, Tardive dyskinesia, Piperidines, otorhinolaryngologic diseases, medicine, Humans, Clozapine, Biological Psychiatry, Pharmacology, Dystonia, Middle Aged, Triazoles, medicine.disease, nervous system diseases, Discontinuation, Dyskinesia, Schizophrenia, Anesthesia, Female, Abnormal Involuntary Movement Scale, medicine.symptom, Psychology, medicine.drug
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