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المؤلفون: Wang, Sailan, Nikamo, Pernilla, Laasonen, Leena, Gudbjornsson, Bjorn, Ejstrup, Leif, Iversen, Lars, Lindqvist, Ulla, 1948, Alm, Jessica J., Eisfeldt, Jesper, Zheng, Xiaowei, Catrina, Sergiu-Bogdan, Taylan, Fulya, Vaz, Raquel, Ståhle, Mona, Tapia-Paez, Isabel
المصدر: Science for Life Laboratory – a national resource center for high–throughput molecular bioscience EMBO Molecular Medicine. 16(3):596-615
مصطلحات موضوعية: NADPH Oxidase 4 (NOX4), Psoriatic Arthritis Mutilans, Reactive Oxygen Species (ROS), Hydrogen Peroxide, Osteoclast Differentiation
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-534277Test
https://doi.org/10.1038/s44321-024-00035-zTest
https://uu.diva-portal.org/smash/get/diva2:1881522/FULLTEXT01.pdfTest -
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المؤلفون: Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Bjoerck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjoe, Anna, Helgadottir, Hafdis T., Hellstroem-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindeloef, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann
المصدر: Genetics in Medicine. 24(11):2296-2307
مصطلحات موضوعية: Chromosomal microarray, Clinical diagnostics, FMR1 analysis, Genome sequencing, Intellectual disability
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191398Test
https://liu.diva-portal.org/smash/get/diva2:1733477/FULLTEXT01.pdfTest -
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المؤلفون: Hård, Joanna, Mold, Jeff E., Eisfeldt, Jesper, Tellgren-Roth, Christian, Häggqvist, Susana, Bunikis, Ignas, Contreras-Lopez, Orlando, Chin, Chen Shan, Nordlund, Jessica, Rubin, Carl Johan, Feuk, Lars, Michaëlsson, Jakob, Ameur, Adam
المصدر: Nature Communications. 14(1)
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-336707Test
https://doi.org/10.1038/s41467-023-40898-3Test -
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المؤلفون: Rezayee, Fatemah, Eisfeldt, Jesper, Skaftason, Aron, Öfverholm, Ingegerd, Sayyab, Shumaila, Syvänen, Ann Christine, Maqbool, Khurram, Lilljebjörn, Henrik, Johansson, Bertil, Olsson-Arvidsson, Linda, Pietras, Christina Orsmark, Staffas, Anna, Palmqvist, Lars, Fioretos, Thoas, Cavelier, Lucia, Fogelstrand, Linda, Nordlund, Jessica, Wirta, Valtteri, Rosenquist, Richard, Barbany, Gisela
المصدر: Frontiers in Oncology. 13
مصطلحات موضوعية: B-cell acute lymphoblastic leukemia, class-defining genetic lesions, diagnostic validation, genomic aberrations, whole-genome sequencing, Medicin och hälsovetenskap, Klinisk medicin, Cancer och onkologi, Medical and Health Sciences, Clinical Medicine, Cancer and Oncology
الوصول الحر: https://lup.lub.lu.se/record/cb0b12de-ee55-4f73-8313-f034c26b0b9cTest
http://dx.doi.org/10.3389/fonc.2023.1217712Test -
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المؤلفون: Saether, Kristine Bilgrav, Nilsson, Daniel, Thonberg, Håkan, Tham, Emma, Ameur, Adam, Eisfeldt, Jesper, Lindstrand, Anna
المصدر: PLOS ONE. 18(7)
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-510110Test
https://doi.org/10.1371/journal.pone.0289346Test
https://uu.diva-portal.org/smash/get/diva2:1791259/FULLTEXT01.pdfTest -
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المؤلفون: Eisfeldt, Jesper, Pettersson, Maria, Petri, Anna, Nilsson, Daniel, Feuk, Lars, Lindstrand, Anna
المصدر: Human Genetics. 140(5):775-790
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-450367Test
https://doi.org/10.1007/s00439-020-02242-3Test
https://uu.diva-portal.org/smash/get/diva2:1585091/FULLTEXT01.pdfTest -
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المؤلفون: Sahlén, Pelin, Spalinskas, Rapolas, Asad, Samina, Mahapatra, Kunal Das, Höjer, Pontus, Anil, Anandashankar, Eisfeldt, Jesper, Srivastava, Ankit, Nikamo, Pernilla, Mukherjee, Anaya, Kim, Kyu-Han, Bergman, Otto, Ståhle, Mona, Sonkoly, Enikö, Pivarcsi, Andor, Wahlgren, Carl-Fredrik, Nordenskjöld, Magnus, Taylan, Fulya, Bradley, Maria, Tapia-Páez, Isabel
المصدر: Journal of Allergy and Clinical Immunology. 147(5):1742-1752
مصطلحات موضوعية: ADO, AFG1L, Atopic dermatitis, CLINT1, Capture Hi-C, LINC00302, RP1-140J1.1, psoriasis
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-441672Test
https://doi.org/10.1016/j.jaci.2020.09.035Test
https://uu.diva-portal.org/smash/get/diva2:1548821/FULLTEXT01.pdfTest -
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المؤلفون: Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna
المصدر: International Journal of Molecular Sciences StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 23(16)
مصطلحات موضوعية: Autistic Disorder/genetics, Chromosome Mapping, Epilepsy/genetics, Humans, Osteoporosis/genetics, Protein Serine-Threonine Kinases/genetics, Translocation, Genetic, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology
الوصول الحر: https://lup.lub.lu.se/record/1f0fa34b-aa3b-4959-b96a-97c9305cbc38Test
http://dx.doi.org/10.3390/ijms23169392Test -
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المصدر: Molecular biology and evolution. 37(1):18-30
مصطلحات موضوعية: population genomics, novel sequences, de novo assembly, ancestral deletion
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-407637Test
https://doi.org/10.1093/molbev/msz176Test
https://uu.diva-portal.org/smash/get/diva2:1420583/FULLTEXT01.pdfTest -
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المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna
المصدر: Human Mutation. 41(11):1979-1998
مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533Test
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdfTest