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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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537022005478Test; https://doaj.org/toc/2589-5370Test
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2دورية أكاديمية
المؤلفون: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugières, Léa Guerrini‐Rousseau, Chrystelle Colas, Martine Muleris, Neil 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, Uğur Demırsoy, Benoît Florkin, William D. Foulkes, Danuta Januszkiewicz‐Lewandowska, Kristi 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
مصطلحات موضوعية: Molecular Characterization of Colorectal Cancer, Pathology and Forensic Medicine, Medicine, Health Sciences, Genomic Landscape of Cancer and Mutational Signatures, Cancer Research, Biochemistry, Genetics and Molecular Biology, Life Sciences, RNA Methylation and Modification in Gene Expression, Molecular Biology, Tumor Microsatellite-Instability, Microsatellite Instability, DNA Mismatch Repair, Microsatellite instability, DNA mismatch repair, Genotype, Lynch syndrome, MSH6, MSH2, Microsatellite, Cohort, Amplicon, Genetics, FOS Biological sciences, Internal medicine, Allele, Cancer, Oncology, Biology, Colorectal cancer
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d78667c83474a24a53d20600fd92dca2Test
https://doi.org/10.1007/s00112-022-01574-wTest -
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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.2022.12.017Test
مصطلحات موضوعية: Constitutional Mutation Burden, Hepatology, Pediatric Cancer, Gastroenterology, Functional Test, Replication Error Repair
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76eeTest
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdfTest -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6266dfdd6dbf7d811dec26882e62e76Test
https://lirias.kuleuven.be/handle/20.500.12942/714718Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::307c8b25940c698c7f6dc62c05b5eb51Test
https://doi.org/10.1055/s-0041-1740549Test -
7دورية 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
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2018.01506/fullTest; https://doaj.org/toc/1664-3224Test
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8دورية أكاديمية
المؤلفون: Victoria K. Tesch, Hanna IJspeert, Andrea Raicht, Daniel Rueda, Nerea Domínguez‐Pinilla, Luís M. Allende, Chrystelle Colas, Thorsten Rosenbaum, Denisa Ilenčíková, Hagit Baris, Michaela Nathrath, Manon Suerink, Danuta Januszkiewicz‐Lewandowska, Iman Ragab, Amedeo A. Azizi, Stefan Wenzel, Johannes Zschocke, Wolfgang Schwinger, Matthias Kloor, Claudia Blattmann, Laurence Brugières, Mirjam van der Burg, Katharina Wimmer, Markus G. Seidel
مصطلحات موضوعية: Genetic Basis of Primary Immunodeficiency Disorders, Immunology, FOS Clinical medicine, Immunology and Microbiology, Life Sciences, Molecular Characterization of Colorectal Cancer, Pathology and Forensic Medicine, Medicine, Health Sciences, Genomic Aberrations and Treatment of Chronic Lymphocytic Leukemia, Genetics, FOS Biological sciences, DNA Mismatch Repair, PMS2, MSH2, DNA mismatch repair, MSH6, Primary immunodeficiency, Immunoglobulin class switching, Common variable immunodeficiency, Biology, Cytidine deaminase, Lynch syndrome, MLH1, Cancer research, DNA repair, Antibody, Immune system, Gene, B cell
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0158278d2bfa768359264a13fdc708fbTest
https://doi.org/10.21873/invivo.12431Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::adc57c14e6620f1f9b847e8ff0d3c934Test
https://doi.org/10.1055/s-0041-1739634Test