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1دورية أكاديمية
المؤلفون: S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal, U. Spiekerkoetter
المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)
مصطلحات موضوعية: Citrin deficiency, Neonatal cholestasis, Hypoglycemia, Newborn screening, Urea cycle defect, SLC25A13, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12887-020-02409-xTest; https://doaj.org/toc/1471-2431Test
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2دورية أكاديمية
المؤلفون: Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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3دورية أكاديمية
المؤلفون: Christiane Engelbertz, Jannik Feld, Lena Makowski, Leonie Kühnemund, Alicia Jeanette Fischer, Stefan A. Lange, Christian Günster, Patrik Dröge, Thomas Ruhnke, Joachim Gerß, Eva Freisinger, Holger Reinecke, Jeanette Köppe
المصدر: BMC Cardiovascular Disorders, Vol 23, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Acute myocardial infarction, Chronic kidney disease, 30-day mortality, Overall survival, Real world data, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2261Test
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4دورية أكاديمية
المؤلفون: Andreas Trausmuth, Matthias Freisinger
المصدر: Open Research Europe, Vol 3 (2023)
مصطلحات موضوعية: Wheel-rail contact, White Etching Layer, Brown Etching Layer, Stratified Surface Layer, eng, Science, Social Sciences
وصف الملف: electronic resource
العلاقة: https://open-research-europe.ec.europa.eu/articles/3-73/v2Test; https://doaj.org/toc/2732-5121Test
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5دورية أكاديمية
المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri
المصدر: Journal of Inherited Metabolic Disease. 42(1)
مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5h73x4jbTest
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6دورية أكاديمية
المؤلفون: Ann-Kathrin Lederer, Alexandra Baginski, Lena Raab, Stefanie Joos, Jan Valentini, Carina Klocke, Yvonne Samstag, Katrin Hübner, Ivana Andreeva, Thomas Simmet, Tatiana Syrovets, Susanne Hafner, Anna Freisinger, Maximilian Andreas Storz, Roman Huber
المصدر: BMC Complementary Medicine and Therapies, Vol 21, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Complementary therapies, Surveys and questionnaires, Health knowledge, Attitudes, Practice, Other systems of medicine, RZ201-999
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2662-7671Test
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7دورية أكاديمية
المؤلفون: Claire Cannet, Allan Bayat, Georg Frauendienst-Egger, Peter Freisinger, Manfred Spraul, Nastassja Himmelreich, Musa Kockaya, Kirsten Ahring, Markus Godejohann, Anita MacDonald, Friedrich Trefz
المصدر: Molecules, Vol 28, Iss 13, p 4916 (2023)
مصطلحات موضوعية: phenylketonuria, metabolomics, Ex Vivo 1H-NMR analysis spectroscopy, genotype, pathogenesis, Organic chemistry, QD241-441
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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9دورية أكاديمية
المؤلفون: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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10دورية أكاديمية
المؤلفون: Holger Reinecke, Christiane Engelbertz, Nasser M Malyar, Antonia Lakomek, Jeanette Köppe, Henrike Barenbrock, Kristina Volkery, Jannik Feld, Lena Makowski, Eva Freisinger
المصدر: BMJ Open, Vol 12, Iss 8 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource