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المؤلفون: Monika Berns, Angela M. Kaindl, Barbara A. Zieba, Tilmann Kallinich, Frédéric Ebstein, Manuela Theophil, Banu Orak, Axel Panzer, Elke Krüger, Gonza Ngoumou, Carl Christoph Goetzke, Christian Meisel, Nadine Unterwalder, Ellen Knierim
المصدر: Pediatric Allergy and Immunology. 32:621-625
مصطلحات موضوعية: Dystonia, Pathology, medicine.medical_specialty, business.industry, Macrophages, Immunology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Atrophy, 030228 respiratory system, Pediatrics, Perinatology and Child Health, Basal ganglia, Humans, Immunology and Allergy, Medicine, Aicardi–Goutières syndrome, 030212 general & internal medicine, Spasticity, medicine.symptom, business, Biomarkers, RNASEH2A, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f109475c01d83d67009fc8878b7f20fTest
https://doi.org/10.1111/pai.13400Test -
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المؤلفون: Martin Kudr, Alena Jahodova, Pavel Seeman, Petra Laššuthová, Petr Dusek, Anezka Belohlavkova, Katalin Sterbova, Gerhard Kluger, Cornelia Betzler, Maria Goerg, Martin Kyncl, Markus Wolff, Pavel Krsek, Barbora Benova, Stuve Burkhard, Axel Panzer, Marketa Vlckova
المصدر: European Journal of Paediatric Neurology. 28:81-88
مصطلحات موضوعية: Male, medicine.medical_specialty, Movement disorders, Neurodegeneration with brain iron accumulation, Iron, Disease, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, WDR45, Intellectual Disability, 030225 pediatrics, Internal medicine, medicine, Humans, Child, Soluble transferrin receptor, Movement Disorders, biology, business.industry, Neurodegenerative Diseases, General Medicine, medicine.disease, Iron Metabolism Disorders, Ferritin, Phenotype, Pediatrics, Perinatology and Child Health, Cohort, biology.protein, Female, Neurology (clinical), medicine.symptom, Carrier Proteins, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2c14372272436f6fd2eab71cdd078cTest
https://doi.org/10.1016/j.ejpn.2020.07.010Test -
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المؤلفون: Axel Panzer
المصدر: NeuroPsychopharmacotherapy ISBN: 9783030620585
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::969f048fb64dac4182279f7b09972ecdTest
https://doi.org/10.1007/978-3-030-62059-2_278Test -
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المؤلفون: Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
المساهمون: Crow Y.J., Marshall H., Rice G.I., Seabra L., Jenkinson E.M., Baranano K., Battini R., Berger A., Blair E., Blauwblomme T., Bolduc F., Boddaert N., Buckard J., Burnett H., Calvert S., Caumes R., Ng A.C.-H., Chiang D., Clifford D.B., Cordelli D.M., de Burca A., Demic N., Desguerre I., De Waele L., Di Fonzo A., Dunham S.R., Dyack S., Elmslie F., Ferrand M., Fisher G., Karimiani E.G., Ghoumid J., Gibbon F., Goel H., Hilmarsen H.T., Hughes I., Jacob A., Jones E.A., Kumar R., Leventer R.J., MacDonald S., Maroofian R., Mehta S.G., Metz I., Monfrini E., Neumann D., Noetzel M., O'Driscoll M., Ounap K., Panzer A., Parikh S., Prabhakar P., Ramond F., Sandford R., Saneto R., Soh C., Stutterd C.A., Subramanian G.M., Talbot K., Thomas R.H., Toro C., Touraine R., Wakeling E., Wassmer E., Whitney A., Livingston J.H., O'Keefe R.T., Badrock A.P.
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, 030105 genetics & heredity, Gene mutation, ribosomopathy, Compound heterozygosity, Genetic analysis, Loss of heterozygosity, Leukoencephalopathy, Consanguinity, Leukoencephalopathies, Pathology, Molecular, Child, Zebrafish, Genetics (clinical), Genetics, Molecular pathology, C/D box snoRNA U8, coats plus, Labrune syndrome, leukoencephalopathy with calcifications and cysts, SNORD118, Calcinosis, Middle Aged, 3. Good health, Child, Preschool, Female, Adult, Heterozygote, Adolescent, coats plu, Biology, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, RNA, Small Nucleolar, Genetic Association Studies, Aged, leukoencephalopathy with calcifications and cyst, Infant, Newborn, Infant, medicine.disease, Disease Models, Animal, 030104 developmental biology
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972Test
http://hdl.handle.net/11585/786787Test -
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المؤلفون: Axel Panzer
المصدر: NeuroPsychopharmacotherapy ISBN: 9783319560151
NeuroPsychopharmacotherapyمصطلحات موضوعية: Anticonvulsant Agent, business.industry, medicine, Pharmacology, business, Vigabatrin, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::46e9340e7d07886daee75845eb46b9c9Test
https://doi.org/10.1007/978-3-319-56015-1_278-1Test -
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المؤلفون: Christian Meisel, Manuela Theophil, Gonza Ngoumou, Carl Christoph Goetzke, Monika Berns, Angela M. Kaindl, Elke Krüger, Banu Orak, Tilmann Kallinich, Barbara A. Zieba, Frédéric Ebstein, Nadine Unterwalder, Axel Panzer, Ellen Knierim
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5a029e8c2586357dc68abae6340b9760Test
https://doi.org/10.1111/pai.13400/v2/response1Test -
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المؤلفون: Bradley S. Galer, Glenn Morrison, Gail Farfel, Gerhard Kluger, Thomas U. Mayer, Rima Nabbout, Markus Wolff, Milka Pringsheim, Ulrich Stephani, Lieven Lagae, Axel Panzer, U. Brandl, Michael Lock, A Gammaitoni, Julia Jacobs
المصدر: Neuropediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Cardiovascular safety, business.industry, Fenfluramine, Extension study, Interim analysis, medicine.disease, Dravet syndrome, Long term data, Medicine, Open label, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a289a6867cfd64855b0b41dde411aeeTest
https://doi.org/10.1055/s-0039-1698220Test -
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المؤلفون: Axel Panzer, Alice Lejeune, Angela M. Kaindl, Ellen Knierim, Christine Prager, Petra Bittigau, Deniz A. Atalay, Benedikt Weißbrich
المصدر: Neuropediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Medicine, business, medicine.disease, Subacute sclerosing panencephalitis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e5e78ceb08014d01c2da6747089350fTest
https://doi.org/10.1055/s-0039-1698197Test -
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المؤلفون: Axel Panzer, Susanne Schaefer, Tilman Polster
المصدر: Neuropediatrics.
مصطلحات موضوعية: Epilepsy, medicine.medical_specialty, Migraine, business.industry, medicine, Visual snow, medicine.symptom, Audiology, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::12829012356338d5f15c5b59375ac76dTest
https://doi.org/10.1055/s-0039-1698175Test -
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المؤلفون: Axel Panzer, Rainer Surges, Hans-Beatus Straub, Ulrich Stephani, Hajo M. Hamer, Frank Kerling, Thomas Mayer, Ingo Borggraefe, Stefan Stodieck, Helmut Laufs, Adam Strzelczyk, Albrecht Kunze, Hartmut Baier, Bettina Schmitz, Tilman Polster, Jörg Wellmer, Andreas Schulze-Bonhage, Felix Rosenow, Soheyl Noachtar, Christoph Kellinghaus, Sarah von Spiczak, Gerhard Kurlemann, Bernd A. Neubauer, Christian G. Bien, Gabriel Möddel, Sven Hethey, Julia Jacobs, U. Brandl, Michael Alber, Frank Bösebeck, Bernhard J. Steinhoff, Felix von Podewils, Martin Staudt, Susanne Knake, Thomas Bast, Christian E. Elger, Sabine Rona, Holger Lerche, Martin Holtkamp
المصدر: Aktuelle Neurologie. 45:513-533
مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, business.industry, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3f5166af153d5f50d5a5a6fcc2886b26Test
https://doi.org/10.1055/s-0043-115381Test