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المؤلفون: Victoria Bogaczyk, Steffen Fleck, Julia Berneiser, Michael Opolka, Marcus Vollmer, Jörg Baldauf, Christin Maria Gasch, Eva Maria Lemke, Ehab El Refaee, Marc Matthes, Holger Hirschfeld, Heinz Lauffer, Michael Gaab, Henry Schroeder, Sascha Marx
المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 38(10)
مصطلحات موضوعية: Adult, Adolescent, Infant, General Medicine, Ventriculoperitoneal Shunt, Ventriculostomy, Young Adult, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Neuroendoscopy, Quality of Life, Humans, Neurology (clinical), Child, Hydrocephalus, Retrospective Studies, Third Ventricle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2538772e50f8139b0e5de42731744c0Test
https://pubmed.ncbi.nlm.nih.gov/36068357Test -
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المؤلفون: Victoria Bogaczyk, Steffen Fleck, Julia Berneiser, Michael Opolka, Marcus Vollmer, Jörg Baldauf, Christin Maria Gasch, Eva Maria Lemke, Ehab El Refaee, Marc Matthes, Holger Hirschfeld, Heinz Lauffer, Michael Gaab, Henry W. S. Schroeder, Sascha Marx
المصدر: Child's Nervous System. 38:1895-1895
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aaf6855b3d15e0ef0c3d207afb7bb833Test
https://doi.org/10.1007/s00381-022-05657-7Test -
3دورية أكاديمية
المؤلفون: Karsten Keller, Heinz Lauffer
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Romana Höftberger, Barbara Kornek, Heinz Lauffer, Steffen Syrbe, Kevin Rostasy, Rainer Seidl, Iris Marquardt, Katharina Diepold, Michael Karenfort, Markus Reindl, Jurgis Strautmanis, Matthias Baumann, Silvia Vieker, Kathrin Schanda, Eva-Maria Hennes
المصدر: Multiple Sclerosis Journal. 22:1821-1829
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Demyelinating Autoimmune Diseases, CNS, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Encephalomyelitis, Autoantibodies, Neuromyelitis optica, biology, business.industry, Multiple sclerosis, medicine.disease, Magnetic Resonance Imaging, Disseminated encephalomyelitis, 030104 developmental biology, Neurology, Child, Preschool, Recurrent optic neuritis, Acute disseminated encephalomyelitis, Immunology, biology.protein, Female, Myelin-Oligodendrocyte Glycoprotein, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e9ddac4ea97808fa6363691346a2b4Test
https://doi.org/10.1177/1352458516631038Test -
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المؤلفون: Carmen Schröder, Dorothee Bernheim, Malte Stopsack, Hans J. Grabe, Carsten Spitzer, Harald J. Freyberger, Heinz Lauffer, Sven Barnow, Christoph Fusch
المصدر: PPmP - Psychotherapie · Psychosomatik · Medizinische Psychologie. 57:353-358
مصطلحات موضوعية: medicine.medical_specialty, Intervention program, business.industry, media_common.quotation_subject, Treatment outcome, Self-esteem, medicine.disease, Obesity, Psychiatry and Mental health, Clinical Psychology, Weight loss, Waiting list, Intervention (counseling), Physical therapy, Medicine, Family history, medicine.symptom, business, Applied Psychology, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3337bae95c385c86af8bbf99eee5bc4cTest
https://doi.org/10.1055/s-2007-970929Test -
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المصدر: Neuropediatrics. 46(2)
مصطلحات موضوعية: Male, Orotic acid, medicine.medical_specialty, Anemia, Megaloblastic, Anemia, Orotate Phosphoribosyltransferase, Orotidine-5'-Phosphate Decarboxylase, Hereditary Orotic Aciduria, Gastroenterology, Epilepsy, Urinary excretion, Metabolic Diseases, Multienzyme Complexes, UMPS DEFICIENCY, Internal medicine, medicine, Humans, Metabolic disease, Megaloblastic anemia, Orotic Acid, business.industry, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f234168b6f0dfeede56298e29d86e3Test
https://pubmed.ncbi.nlm.nih.gov/25803822Test -
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المؤلفون: Marlène Rio, Vincent Laugel, Christine Barnerias, Vijay Aswani, Guillermo Agosta, Rachel Straussberg, Diana Chase, Maja Di Rocco, Mohamed S. Abdel-Hamid, Daniel R. Carvalho, Montse Arellano, Maya Thomas, Yanick J. Crow, Giovanni Crichiutti, Lyvia Dabydeen, Miriam Bloom, Kathryn J. Swoboda, Bertrand Isidor, Kevin J. Murray, Nasaim Khan, Agathe Roubertie, Kathryn Bailey, Johanna Lowenstein Schmidt, Noemi Nunez-Enamorado, Venkateswaran Ramesh, Simona Orcesi, Michael C Fahey, Keng Wee Teik, Ram L. Kumar, Gabriella Forte, Roberta Battini, Alec Aeby, Flore Rozenberg, Nadia Bahi-Buisson, Eileen Baildam, Sam Ackroyd, Magnhild Rasmussen, Doriette Soler, Diana Rodriguez, Marjo S. van der Knaap, Sheela Nampoothiri, Bülent Kara, Ivana Olivieri, Julie Vogt, Julie S. Prendiville, Ghada M H Abdel-Salam, Thierry Billette de Villemeur, Ronen Spiegel, Tommy Stödberg, Rudy Van Coster, Marianne Till, Alberto B. Burlina, Enza Maria Valente, Patrick J. Oades, Gyanranjan P. Sinha, Beverley Anderson, William P Whitehouse, Raymon Vijzelaar, Liesbeth De Waele, Cristina Cereda, Hannah J. Webb, Gillian I. Rice, Geneviève Bernard, Anthony Oojageer, Stefano D'Arrigo, Ming K. Lim, Donncha Hanrahan, Nuno Cordeiro, Adeline Vanderver, Hannah Gornall, Manuel Castro-Gago, Johann te Water Naude, Grace Vassallo, Stavit Allon-Shalev, Belén Pérez-Dueñas, Charles Marques Lourenço, Sameer M. Zuberi, Magalie Barth, Lieven Lagae, Cyril Goizet, Christian de Goede, Tiong Yang Tan, Jenny Morton, Riyana Babul-Hirji, Mark T Mackay, Geoffrey Wallace, Elisabetta Salvatici, Heinz Lauffer, Corinne De Laet, Federica Ricci, Russell C. Dale, Maria Luisa Carpanelli, Catherine Albin, Elisa Fazzi, Michael W. Beresford, Pierre Lebon, Abigail Collins, Roberta La Piana, Amy Pizzino, Edward Blair, Nirmala Rani Gowrinathan, Mohnish Suri, Rima Nabbout, Guy Helman, Luc Régal, Karin Segers, John H. Livingston, Davide Tonduti, Uta Tacke, António Figueiredo, Robyn Whitney, Blanca Gener, John R. Østergaard, David Chitayat, Kalpana Gowrishankar, Tarja Linnankivi, Edwin P. Kirk, Jean-Pierre Lin, Pierre Landrieu, Isabella Moroni, Mary D. King, Colin D. Ferrie, Koenraad Devriendt, Anna Cavallini, Shane McKee, Marika Bianchi, Daphna Marom, Marcin Szynkiewicz, Isabelle Desguerre, Evangeline Wassmer, Kate Chandler, Maha S. Zaki, Inés Denzler, Giada Ariaudo, Marie Laure Moutard, Concepcion Sierra Corcoles
المساهمون: Pediatric surgery, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Other departments
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Crow, Y J, Chase, D S, Schmidt, J L, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, de Villemeur, T B, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Corcoles, C S, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, de Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J P S M, Linnankivi, T, Mackay, M T, Marom, D R, Lourenco, C M, McKee, S A, Moroni, I, Morton, J E V, Moutard, M L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Perez-Duenas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Knaap, M, Orcesi, S & Rice, G I 2015, ' Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics Part A, vol. 167, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887Test
Crow, Y J, Chase, D S, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, G M A, Gornall, H L, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, M S, Abdel-Salam, G M, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, E M, Bahi-Buisson, N, Bailey, K M, Barnerias, C, Barth, M, Battini, R, Beresford, M W, Bernard, G, Bianchi, M, Billette de Villemeur, T, Blair, E M, Bloom, M, Burlina, A B, Carpanelli, M L, Carvalho, D R, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, K E, Chitayat, D A, Collins, A E, Sierra Corcoles, C, Cordeiro, N J V, Crichiutti, G, Dabydeen, L, Dale, R C, D'Arrigo, S, De Goede, C G E L, De Laet, C, De Waele, L M H, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, M C, Fazzi, E, Ferrie, C D, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, N R, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, M D, Kirk, E P, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, M J, Lin, J-P S-M, Linnankivi, T, Mackay, M T, Marom, D R, Marques Lourenço, C, McKee, S A, Moroni, I, Morton, J E V, Moutard, M-L, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, P J, Olivieri, I, Ostergaard, J R, Pérez-Dueñas, B, Prendiville, J S, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, K A, Sinha, G P, Soler, D, Spiegel, R, Stödberg, T I, Straussberg, R, Swoboda, K J, Suri, M, Tacke, U, Tan, T Y, te Water Naude, J, Wee Teik, K, Thomas, M M, Till, M, Tonduti, D, Valente, E M, Van Coster, R N, van der Knaap, M S, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, G B, Wassmer, E, Webb, H J, Whitehouse, W P, Whitney, R N, Zaki, M S, Zuberi, S M, Livingston, J H, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, G I 2015, ' Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 ', American Journal of Medical Genetics. Part A, vol. 167A, no. 2, pp. 296-312 . https://doi.org/10.1002/ajmg.a.36887Test
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
American Journal of Medical Genetics Part A, 167(2), 296-312. Wiley-Liss Inc.
American journal of medical genetics. Part A, 167(2), 296-312. Wiley-Liss Inc.
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Interferon-Induced Helicase, IFIH1, Adenosine Deaminase, Autoimmune diseases, Fenótipo, Disease, Aicardi–Goutieres syndrome, Aicardi-Goutières syndrome, Bilateral striatal necrosis, DEAD-box RNA Helicases, 0302 clinical medicine, Genetics (clinical), 0303 health sciences, Doenças auto-imunes do sistema nervoso, 3. Good health, Phenotype, Spastic paraparesis, Biomarker (medicine), Vasculitis, bilateral striatal necrosis, spastic paraparesis, type I interferon, interferon signature, Genotype, Encephalopathy, Ribonuclease H, Alpha interferon, Biology, Nervous System Malformations, Article, SAM Domain and HD Domain-Containing Protein 1, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, SDG 3 - Good Health and Well-being, Interferon signature, Type I interferon, Exodeoxyribonucleases, Genetic Association Studies, Humans, Interferons, Monomeric GTP-Binding Proteins, Phosphoproteins, Pterins, Mutation, Genetics, medicine, Chilblains, 030304 developmental biology, Aicardi-Goutieres syndromebilateral striatal necrosisspastic paraparesistype I interferoninterferon signature, medicine.disease, Peripheral neuropathy, Immunology, Aicardi–Goutières syndrome, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1337c25fc2ffde230315cbbf40e20927Test
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36887Test -
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المؤلفون: Heinz Lauffer, Karsten Keller
المصدر: International Journal of Bifurcation and Chaos. 13:2657-2668
مصطلحات موضوعية: Matrix (mathematics), Applied Mathematics, Modeling and Simulation, Symbolic dynamics, Entropy (information theory), High dimensional, Time series, Information theory, Engineering (miscellaneous), Algorithm, Symbolic data analysis, Correspondence analysis, Mathematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e67c21c8782809c2a88df078117f8403Test
https://doi.org/10.1142/s0218127403008168Test
