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1دورية أكاديمية
المؤلفون: Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner
المصدر: EClinicalMedicine, Vol 56, Iss , Pp 101818- (2023)
مصطلحات موضوعية: Guideline, Neurofibromatosis type 1, Tumour predisposing syndrome, Management, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Dominguez-Pinilla, Luis M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilencikova, Hagit N. Baris, Michaela H. M. Nathrath, Manon Suerink, Danuta Januszkiewicz-Lewandowska, Iman Ragab, Amedeo A. Azizi, Soeren S. Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugieres, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel
المصدر: Frontiers in Immunology, Vol 9 (2018)
مصطلحات موضوعية: primary immunodeficiency, hyper-IgM syndrome, DNA repair defect, mismatch repair, somatic hypermutation, class-switch recombination, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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المؤلفون: Angela M. Kaindl, Julia B. Hennermann, Hans H. Niller, Ute Hehr, Horst von Bernuth, Rabih Chaoui, Sybille Landwehr-Kenzel, Gabriele Hahn, Christine Mundlos, Ulrich-Wilhelm Thomale, Thorsten Rosenbaum, Ute Moog, Denise Horn, Maja von der Hagen
المصدر: Monatsschrift Kinderheilkunde. 170:929-933
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Surgery
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المؤلفون: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref
المصدر: Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017
مصطلحات موضوعية: Constitutional Mutation Burden, Hepatology, Pediatric Cancer, Gastroenterology, Functional Test, Replication Error Repair
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf -
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المؤلفون: Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, Rianne Oostenbrink, Joan Brunet, Frank Van Calenbergh, Catherine Cassiman, Thomas Czech, María José Gavarrete de León, Henk Giele, Susie Henley, Conxi Lazaro, Vera Lipkovskaya, Eamonn R. Maher, Vanessa Martin, Irene Mathijssen, Enrico Opocher, Ana Elisabete Pires, Thomas Pletschko, Eirene Poupaki, Vita Ridola, Andre Rietman, Thorsten Rosenbaum, Alastair Santhouse, Astrid Sehested, Ian Simmons, Walter Taal, Anja Wagner
مصطلحات موضوعية: Tumour predisposing syndrome, General Medicine, Guideline, Management, Neurofibromatosis type 1
وصف الملف: Electronic-eCollection
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6266dfdd6dbf7d811dec26882e62e76
https://lirias.kuleuven.be/handle/20.500.12942/714718 -
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المؤلفون: Pia, Vaassen, Nikola Reinhard, Dürr, Thorsten, Rosenbaum
المصدر: Neuropediatrics. 53:052-060
مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Neurofibromatosis 1, Pediatrics, Perinatology and Child Health, Quality of Life, Humans, Neurology (clinical), General Medicine, Child, Protein Kinase Inhibitors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::307c8b25940c698c7f6dc62c05b5eb51
https://doi.org/10.1055/s-0041-1740549 -
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المؤلفون: Felix K Kohlrusch, Thorsten Rosenbaum, Jozef Zustin, Andreas M. Luebke, Christian Hagel, Reinhard E Friedrich, Martin Zenker, Ilse Wieland, Martin Gosau
المصدر: In Vivo
مصطلحات موضوعية: Cancer Research, JAG1, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, General Biochemistry, Genetics and Molecular Biology, Germline mutation, Alagille syndrome, Humans, Medicine, Neurofibromatosis, Pharmacology, business.industry, Cherubism, Jaffe–Campanacci syndrome, medicine.disease, Dermatology, Alagille Syndrome, Phenotype, Lower Extremity, Female, business, Literature survey, Central giant-cell granuloma, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0158278d2bfa768359264a13fdc708fb
https://doi.org/10.21873/invivo.12431 -
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المؤلفون: Nikola Dürr, Thorsten Rosenbaum, Pia Vaassen
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: medicine.medical_specialty, Plexiform neurofibroma, business.industry, medicine, Treatment options, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::adc57c14e6620f1f9b847e8ff0d3c934
https://doi.org/10.1055/s-0041-1739634 -
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المؤلفون: Jörg Schaper, Arndt Borkhardt, Sebastian Ginzel, Torsten Pietsch, Jessica I. Hoell, Thorsten Rosenbaum, Michaela Kuhlen, Celine Chiu, Stefanie Loth
المصدر: Familial cancer 18(3), 353-358 (2019). doi:10.1007/s10689-019-00121-z
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, medicine.medical_treatment, Fulminant, genetics [DNA-Binding Proteins], SON protein, human, 030105 genetics & heredity, Minor Histocompatibility Antigens, Cancer syndrome, Consanguinity, 03 medical and health sciences, Fatal Outcome, 0302 clinical medicine, Café au lait spot, Internal medicine, Genetics, medicine, Humans, Point Mutation, genetics [Cerebellar Neoplasms], ddc:610, Cerebellar Neoplasms, Survival rate, Genetics (clinical), Medulloblastoma, Chemotherapy, genetics [Medulloblastoma], business.industry, Cafe-au-Lait Spots, genetics [Cafe-au-Lait Spots], Multimodal therapy, Syndrome, genetics [Minor Histocompatibility Antigens], medicine.disease, Pedigree, DNA-Binding Proteins, Radiation therapy, Child, Preschool, 030220 oncology & carcinogenesis, medicine.symptom, business
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المؤلفون: Matthias K. Bernhard, Rainer Blank, Simon Dulz, Friedrich Ebinger, Martin Ebinger, Reinhard E. Friedrich, Jan Frölich, Jutta Gärtner, Christian Hagel, Martin Häusler, Volker Hömberg, Dagmar Hornung, Gerhard Jorch, Charlotte Jaite, Nikolai Jung, Gertrud Kammler, Christine Klein, Alfried Kohlschütter, Uwe Kordes, Rudolf Korinthenberg, Ingeborg Krägeloh-Mann, Matthias Krause, Jutta Kunde-Trommer, Gerd Lehmkuhl, Ulrike Lehmkuhl, Dieter Linhart, Ulrike Löbel, Volker Mall, Victor-Felix Mautner, Juliane Mehlan, Andreas Merkenschlager, Arpad von Moers, Kristina Müller, Wolfgang Müller-Felber, Alexander Münchau, Silvia Müther, Nicole Muschol, Ulf Nestler, Heymut Omran, Christos P. Panteliadis, Georgia Ramantani, Veit Roessner, Dagmar Röhling, Thorsten Rosenbaum, Aribert Rothenberger, Jobst Rudolf, Stefan Rutkowski, Erich Rutz, Harriet Salbach, Rolf L. Schlößer, Markus Schneider, Susanne A. Schneider, Ludger Schöls, Rainer Schönweiler, Ulrich Schüller, Judith Sinzig, Frank Schüttauf, Ute Spiekerkötter, Martin Spitzer, Robert Steinfeld, Ulrich Stephani, Waldemar von Suchodoletz, Matthis Synofzik, Christian Thiel, Tanja Tischler, Eugen Trinka, Iris Unterberger, Vera van Velthoven, Ekkehard Wilichowski
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ce25a158765423c1b327f96057003b69
https://doi.org/10.1016/b978-3-437-23077-6.00024-4